299 panels

Panel
299 panels
Relevant disorders: R169
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R419
Version 1.7
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 31 May 2023
Relevant disorders: Adult onset movement disorder, R56
Version 4.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Hereditary spastic paraplegia - adult onset, R60
Version 5.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: White matter disorders - adult onset, R62
Version 5.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Neurodegenerative disorders - adult onset, R58
Version 6.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Carcinoma of unknown primary, Other, Adult solid tumours pertinent cancer susceptibility
Version 2.2
Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off
Signed Off on 18 Feb 2020
Relevant disorders: R233
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R39
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R293
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R106
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R330
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Amelogenesis Imperfecta, R340
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R414
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Arrhythmogenic cardiomyopathy, R133
Version 3.11
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Relevant disorders: Arthrogrythsis, R83
Version 7.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 7 Aug 2024
Version 6.0
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset
Signed Off on 7 Aug 2024
Relevant disorders: R295
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R201
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R19
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R155
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R413
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 1 May 2024
Relevant disorders: R167
Version 1.5
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 11 Nov 2020
Relevant disorders: R422
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R107
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: R391
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R49.3
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Cataracts, R31
Version 5.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R90
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R43
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Adult Glioma
Version 1.0
Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off
Signed Off on 29 Sept 2021
Relevant disorders: Breast
Version 2.0
Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Brugada syndrome, R128
Version 3.10
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cardiac arrhythmias, Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Relevant disorders: R337
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R319
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Cardiac arrythmias
Version 13.4
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 22 Mar 2023
Version 3.0
Panel Types: Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cardiac arrhythmias
Signed Off on 22 Mar 2023
Relevant disorders: R156
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Catecholaminergic Polymorphic Ventricular Tachycardia, R129
Version 4.6
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cardiac arrhythmias, Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Relevant disorders: R333
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Cerebral malformations, R87
Version 13.2
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Cerebrovascular disorders, Vein of Galen malformation, Cerebral arteriovenous malformations, Moyamoya disease, R336
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Childhood onset dystonia or chorea or related movement disorder, R57
Version 5.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Hereditary spastic paraplegia - childhood onset, R61
Version 6.0
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: White matter disorders - childhood onset, R109
Version 23.1
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Paediatric congenital malformation-dysmorphism-tumour syndrome, Paediatric congenital malformation-dysmorphism-tumour syndromes, Paediatric congenital malformation-dysmorphism-tumour sydromes, Paediatric congenital malformation-dysmorphism-tumour syndrome, Tumour predisposition - childhood onset, R359
Version 4.0
Panel Types: Rare Disease 100K, GMS Rare Disease, GMS Cancer Germline Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R171
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Familial non-syndromic cleft lip and or familial cleft palate, Familial non-syndromic clefting, Syndromic cleft lip and or cleft palate, Syndromic clefting
Version 6.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders
Signed Off on 7 Aug 2024
Relevant disorders: R415
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R124
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: R123
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R99
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 13 Feb 2020
Relevant disorders: R229, R258, Confirmed Fanconi anaemia or Bloom syndrome - mutation testing, Cytopenia - Fanconi breakage testing indicated
Version 2.5
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 1 May 2024
Relevant disorders: R180
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R150
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: Congential disorders of glycosylation
Version 6.0
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset
Signed Off on 7 Aug 2024
Relevant disorders: R46
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: Hyperinsulinism, R144
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Congenital hypothyroidism or thyroid agenesis, R145
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 25 Feb 2020
Relevant disorders: R79
Version 4.24
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders
Signed Off on 7 Aug 2024
Relevant disorders: Congenital myaesthenia, Congenital myasthenia, R80
Version 4.6
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders
Signed Off on 7 Aug 2024
Relevant disorders: R81
Version 4.38
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders
Signed Off on 7 Aug 2024
Relevant disorders: Corneal dystrophies, R262
Version 3.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R237
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R184
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Cystic kidney disease
Version 6.0
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cystic renal disease
Signed Off on 7 Aug 2024
Relevant disorders: Cystic renal disease - PKD1, R193
Version 9.2
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R334
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R91
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Version 4.6
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders
Signed Off on 7 Aug 2024
Relevant disorders: R449
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R450
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R451
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R364
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R146, Disorders of sex development
Version 4.5
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 1 May 2024
Relevant disorders: Dilated cardiomyopathy - adult and teen, R132
Version 2.31
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Version 5.0
Panel Types: Rare Disease 100K, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders
Signed Off on 7 Aug 2024
Relevant disorders: R73
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Epilepsy Plus, Epilepsy plus other features, Genetic Epilepsy Syndromes, Epileptic encephalopathy, Familial Focal Epilepsies, Familial Genetic Generalised Epilepsies, Genetic Epilepsies with Febrile Seizures Plus (GEFS+), Genetic Epilepsies with Febrile Seizures Plus, Early onset or syndromic epilepsy, Genetic epilepsy syndromes, R59
Version 6.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders, Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Relevant disorders: R163
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Classical Ehlers Danlos Syndrome, Classical Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense), Ehlers-Danlos syndrome type 3, Kyphoscoliotic Ehlers-Danlos syndrome, EDS, Ehlers-Danlos syndromes, Ehlers Danlos syndromes, R101
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R140
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Endocrine neoplasms, R217
Version 3.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R255
Version 1.3
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: R164
Version 2.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R335
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R345
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R112
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R118
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R115
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R116
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R117
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R119
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R120
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R122
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Lipoprotein lipase deficiency, R324
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R329
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Familial hypercholesterolaemia - targeted panel, R134
Version 2.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Familial hyperparathyroidism, Hypocalciuric hypercalcaemia, R151
Version 3.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: Familial or syndromic hypoparathyroidism, R153
Version 2.14
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 1 May 2024
Relevant disorders: R254
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: Rhabdoid tumour predisposition, R358
Version 1.9
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R162
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: R221
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 20 Dec 2023
Relevant disorders: R21, Fetal anomalies with a likely genetic cause, Fetal anomalies with a likely genetic cause - non urgent, R412
Version 4.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 1 May 2024
Relevant disorders: R365
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R272
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R384
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R142
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R274
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R273
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R288
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Haemonc, Haematological malignancies pertinent cancer susceptibility
Version 4.0
Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Alport syndrome, Familial haematuria, R194
Version 2.4
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: R361
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R232
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R18
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R436
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R341
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies, R55, R84
Version 17.2
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Hereditary ataxia - adult onset, R54
Version 6.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: CDH1-related cancer syndrome, R215
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 20 Dec 2023
Relevant disorders: R405
Version 2.0
Panel Types: Rare Disease 100K, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Familial and multiple pulmonary arteriovenous malformations, R186
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: Neuropophyseal diabetes insipidus, R440
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 20 Dec 2023
Relevant disorders: Hereditary neuropathy NOT PMP22 copy number, Hereditary neuropathy or pain disorder - NOT PMP22 copy number, R78
Version 5.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Amyloidosis, R204
Version 1.18
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R177
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly, R85
Version 5.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cerebral malformation
Signed Off on 7 Aug 2024
Relevant disorders: Hydrocephalus, R86
Version 5.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Resistance to thyroid hormone, R182
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: Hypertrophic cardiomyopathy - teen and adult, HCM, R131
Version 4.13
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Relevant disorders: Hypogonadotropic hypogonadism idiopathic, R148
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R154
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant with a likely central cause, R69
Version 33.7
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R165
Version 3.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R239
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R208
Version 2.5
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 12 Apr 2023
Relevant disorders: R210
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: Familial ovarian cancer, R207
Version 4.0
Panel Types: Rare Disease 100K, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R367
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: R226
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R223
Version 3.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Inherited polyposis, R211
Version 3.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R347
Version 3.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R363
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R430
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R224
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R366
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Coarse facial features including Coffin-Siris-like disorders, ID, Moderate, severe or profound intellectual disability, Schizophrenia plus additional features, Intellectual disability - microarray, fragile X and sequencing, Intellectual disability - microarray and sequencing, R29
Version 7.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Childhood onset leukodystrophy, Hypotonic infant, Paediatric disorders
Signed Off on 7 Aug 2024
Relevant disorders: R331, Intestinal failure
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R157
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Iron metabolism disorders, R96
Version 2.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R280
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R281
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R139
Version 3.9
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 1 May 2024
Relevant disorders: R41.3, R42.1
Version 2.5
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R216
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Likely inborn error of metabolism - targeted testing not possible, Inborn errors of metabolism, R98
Version 6.0
Panel Types: GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Childhood onset leukodystrophy, Hypotonic infant, Paediatric disorders, Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Version 6.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders
Signed Off on 7 Aug 2024
Relevant disorders: Limb girdle muscular dystrophy, R82
Version 4.34
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders
Signed Off on 7 Aug 2024
Relevant disorders: R158
Version 4.0
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Long QT, R127
Version 3.8
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cardiac arrhythmias, Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Relevant disorders: R17
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R325
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R276
Version 3.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Version 6.0
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cerebral malformation
Signed Off on 7 Aug 2024
Relevant disorders: R371
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis, Primary membranoproliferative glomerulonephritis, Membranoproliferative glomerulonephritis, R197
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R396
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R353
Version 3.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R354
Version 2.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R355
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R356
Version 3.20
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 1 May 2024
Relevant disorders: R357
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features
Version 7.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Childhood onset leukodystrophy
Signed Off on 7 Aug 2024
Relevant disorders: R352
Version 3.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Mitochondrial liver disease, R317
Version 1.9
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R394
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R338
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R141
Version 2.2
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 25 Feb 2020
Relevant disorders: Hearing loss, Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe), Non-syndromic hearing loss, R67
Version 4.50
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders
Signed Off on 7 Aug 2024
Relevant disorders: R453
Version 1.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R327
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: R289, Mucolipidosis II and III Alpha/Beta
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R277, Mucopolysaccharidosis type IH/S
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R278
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R291
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R292
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R287
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R290
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R417.2
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R218
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R390
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R230
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: R351
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Neonatal diabetes (diagnosed less than 6 months), Neonatal diabetes diagnosed <6 months, Diabetes - neonatal onset, R143
Version 5.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R143.1, Neonatal diabetes
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 26 Sept 2023
Relevant disorders: Renal tract calcification (or Nephrolithiasis or nephrocalcinosis), Renal tract calcification (or Nephrolithiasis/nephrocalcinosis), R256
Version 4.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R222
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Version 4.5
Panel Types: Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset, Paediatric disorders, Rare multisystem ciliopathy Super panel
Signed Off on 7 Aug 2024
Version 2.13
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cerebral malformation
Signed Off on 7 Aug 2024
Relevant disorders: R231
Version 2.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R271
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R313
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R214
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R380
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R282
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R259.2
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R168
Version 1.4
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Version 4.4
Panel Types: Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders, Rare multisystem ciliopathy Super panel
Signed Off on 7 Aug 2024
Relevant disorders: Inherited optic neuropathies, R41
Version 4.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Osteogenesis Imperfecta, R102
Version 4.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R104.4
Version 1.1
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 21 Sept 2020
Relevant disorders: Neuromuscular disorders, R381
Version 23.7
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Ovarian
Version 2.0
Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R27
Version 52.5
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 7 Aug 2024
Version 5.0
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders
Signed Off on 7 Aug 2024
Version 3.7
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders
Signed Off on 7 Aug 2024
Relevant disorders: Cardiomyopathies - including childhood onset, R135
Version 5.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Relevant disorders: R438
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R166
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R175
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: Paroxysmal neurological disorders, pain disorders and sleep disorders, R66
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R212
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R283
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R236
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R159
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Familial Pneumothorax, Familial Primary Spontaneous Pneumothorax, R190
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R315
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Polycystic liver disease interim, R173
Version 1.26
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R63
Version 3.105
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 1 May 2024
Relevant disorders: R344
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Primary immunodeficiency disorders, A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency, SCID, Primary immune disorder, Primary immunodeficiency, A-gammaglobulinaemia, Agammaglobulinaemia, hypo-gammaglobulinaemia, hypogammaglobulinemia, immune deficiency syndromes, Severe combined immunodeficiency, Congenital neutopenia, Familial haemophagocytic lymphohistiocytic disorders, Familial hemophagocytic lymphohistiocytic disorders, PID, Sepsis, Disseminated non-tuberculous mycobacterial infection, Primary immunodeficiency, R15
Version 6.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease, R136
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: R160
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: R328
Version 2.8
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Relevant disorders: R195
Version 4.13
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R420
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R213
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R426
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: PAH, R188
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: R421
Version 1.3
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: R316
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 17 Feb 2020
Relevant disorders: R92
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R332
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Version 16.4
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis, Craniosynostosis, R100
Version 5.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 1 May 2024
Version 3.8
Panel Types: Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cystic renal disease, Paediatric disorders, Rare multisystem ciliopathy Super panel
Signed Off on 7 Aug 2024
Relevant disorders: Renal tubular acidosis, R198
Version 4.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R189
Version 3.10
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 1 May 2024
Relevant disorders: Posterior segment abnormalities, Cone Dysfunction Syndrome, Developmental macular and foveal dystrophy, Inherited macular dystrophy, Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy, Rod Dysfunction Syndrome, Rod-cone dystrophy, Familial exudative vitreoretinopathy, Familial exudative retinopathy, Sorsby retinal dystrophy, Doyne retinal dystrophy, R32
Version 6.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R219
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Version 5.0
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders
Signed Off on 7 Aug 2024
Relevant disorders: R285
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Version 1.2
Panel Types: GMS Cancer Germline Virtual, GMS signed-off
Signed Off on 18 Feb 2020
Relevant disorders: R235
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R376
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Regional overgrowth disorders, Segmental overgrowth disorders, R110
Version 3.3
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R16
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R234
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Significant early-onset obesity with or without other endocrine features and short stature, Significant early-onset obesity +/- other endocrine features and short stature, R149
Version 4.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum, Severe microcephaly, R88
Version 6.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R130
Version 3.12
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cardiac arrhythmias, Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood
Signed Off on 7 Aug 2024
Relevant disorders: R52
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R323
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Version 5.0
Panel Types: Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders, Rare multisystem ciliopathy Super panel
Signed Off on 7 Aug 2024
Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia, R104
Version 6.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders
Signed Off on 7 Aug 2024
Relevant disorders: R76, Myotonia congenita
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R270
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R71
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Aniridia, R38
Version 3.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R45
Version 4.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R36
Version 4.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R424
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Molecular autopsy, Sudden cardiac death, Sudden cardiac death PILOT, R138, R425
Version 19.73
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS Rare Disease, GMS signed-off
Signed Off on 1 May 2024
Relevant disorders: R192
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 2 Mar 2020
Relevant disorders: R416
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R286
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R93
Version 2.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R25
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R395
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Thoracic aortic aneurysm and dissection, R125
Version 3.0
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R406
Version 1.1
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 30 Sept 2020
Relevant disorders: Thrombophilia, R97
Version 2.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R228
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R202
Version 3.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023
Relevant disorders: R441
Version 12.10
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: Unexplained paediatric onset end-stage renal disease, R257
Version 5.0
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 7 Aug 2024
Relevant disorders: R284
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R170
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R326
Version 1.3
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: R225
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R121
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Version 5.0
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Childhood onset leukodystrophy
Signed Off on 7 Aug 2024
Relevant disorders: R220
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 30 Nov 2022
Relevant disorders: R172
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: R20
Version 1.0
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 14 Sept 2023
Relevant disorders: Cockayne and Xeroderma Pigmentosum-like disorders, Cockayne syndrome, Xeroderma Pigmentosum-like disorders, XP-like disorders, R227
Version 3.0
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 22 Mar 2023