173 panels

Panel
173 panels
Relevant disorders: R56, Adult onset dystonia, chorea or related movement disorder
Version 1.121
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 5 Aug 2021
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: R39
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: Amelogenesis Imperfecta, R340
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 13 Feb 2020
Relevant disorders: R204
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 13 Feb 2020
Relevant disorders: R38
Version 2.5
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: Arrhythmogenic Right Ventricular Cardiomyopathy, Arrythmogenic cardiomyopathy, R133
Version 2.9
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 cardiac death
Signed Off on 15 Oct 2020
Relevant disorders: Arthrogrythsis, R83
Version 3.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 13 Feb 2020
Version 2.23
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 8 Oct 2020
Relevant disorders: R201
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 13 Feb 2020
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: R107
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 18 Feb 2020
Relevant disorders: R90
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: R128
Version 2.4
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cardiac arrhythmias, Sudden cardiac death
Signed Off on 20 Aug 2020
Relevant disorders: Cardiac arrythmias
Version 6.27
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 4 Mar 2020
Version 1.6
Panel Types: Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cardiac arrhythmias
Signed Off on 4 Mar 2020
Relevant disorders: Paediatric or syndromic cardiomyopathy, R135
Version 1.4
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: R31, Bilateral congenital or childhood onset cataracts
Version 2.76
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 5 Aug 2021
Relevant disorders: Catecholaminergic Polymorphic Ventricular Tachycardia, R129
Version 2.5
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cardiac arrhythmias, Sudden cardiac death
Signed Off on 20 Aug 2020
Relevant disorders: Cerebral malformation, R87
Version 5.17
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: Cerebrovascular disorders, Vein of Galen malformation, Cerebral arteriovenous malformations, Moyamoya disease, R336
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 2 Mar 2020
Relevant disorders: R57, Childhood onset dystonia, chorea or related movement disorder
Version 1.137
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 5 Aug 2021
Relevant disorders: R171
Version 1.21
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 20 Aug 2020
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 2.2
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 4 Mar 2020
Relevant disorders: R124
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: R99
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 13 Feb 2020
Relevant disorders: R229, R258
Version 1.7
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: R150
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: Congential disorders of glycosylation
Version 2.4
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 4 Mar 2020
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 2.3
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 25 Feb 2020
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 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Neuromuscular disorders
Signed Off on 2 Mar 2020
Relevant disorders: Congenital myaesthenia, Congenital myasthenia, R80
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Neuromuscular disorders
Signed Off on 2 Mar 2020
Relevant disorders: R81
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Neuromuscular disorders
Signed Off on 2 Mar 2020
Relevant disorders: R262
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis, R100
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 13 Feb 2020
Relevant disorders: R237
Version 1.3
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: Cystic kidney disease
Version 2.2
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 19 Feb 2020
Relevant disorders: Cystic renal disease - PKD1, R193
Version 3.19
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R91
Version 1.29
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Version 2.2
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders
Signed Off on 13 Feb 2020
Relevant disorders: Neonatal diabetes (diagnosed less than 6 months), Neonatal diabetes, Neonatal diabetes diagnosed <6 months, R143
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: R132
Version 1.6
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Sudden cardiac death
Signed Off on 15 Oct 2020
Relevant disorders: R146
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 3 Mar 2020
Version 1.21
Panel Types: Rare Disease 100K, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Neuromuscular disorders
Signed Off on 11 Nov 2020
Relevant disorders: R163
Version 1.10
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
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, R101
Version 2.3
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R217
Version 1.3
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
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 1.3
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: R134
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 17 Feb 2020
Relevant disorders: R151
Version 2.3
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: Familial or syndromic hypoparathyroidism, R153
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 25 Feb 2020
Relevant disorders: R254
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
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: R21, Fetal anomalies with a likely genetic cause
Version 1.92
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 21 Aug 2020
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, R59
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 13 Feb 2020
Relevant disorders: R274
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 18 Feb 2020
Relevant disorders: R147
Version 1.4
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: Haemonc, Haematological malignancies 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: 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: Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe), R67
Version 2.5
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 13 Feb 2020
Relevant disorders: Hereditary ataxia with onset in adulthood, R54
Version 2.13
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 6 Oct 2020
Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies, R55, R84
Version 6.51
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 9 Oct 2020
Relevant disorders: R405
Version 1.19
Panel Types: Rare Disease 100K, GMS Rare Disease, GMS signed-off
Signed Off on 30 Sept 2020
Relevant disorders: Familial and multiple pulmonary arteriovenous malformations, R186
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 2 Mar 2020
Relevant disorders: R78, Hereditary neuropathy or pain disorder – NOT PMP22 copy number
Version 1.36
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 5 Aug 2021
Relevant disorders: R60, Adult onset hereditary spastic paraplegia
Version 1.27
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 5 Aug 2021
Relevant disorders: Childhood onset hereditary spastic paraplegia, R61
Version 2.18
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 8 Oct 2020
Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly - NOT chromosomal, R85
Version 2.3
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cerebral malformations
Signed Off on 27 Feb 2020
Relevant disorders: Hydrocephalus, R86
Version 2.3
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Signed Off on 2 Mar 2020
Relevant disorders: Resistance to thyroid hormone, R182
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: Hypertrophic Cardiomyopathy, HCM, R131
Version 2.11
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 cardiac death
Signed Off on 15 Oct 2020
Relevant disorders: R152
Version 2.2
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: R148
Version 1.4
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R154
Version 2.2
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant with a likely central cause, R69
Version 9.41
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R165
Version 1.3
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: Likely inborn error of metabolism - targeted testing not possible, Likely inborn error of metabolism, R98
Version 2.3
Panel Types: GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Paediatric disorders, White matter disorders - childhood onset
Signed Off on 17 Feb 2020
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 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R367
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R223
Version 1.4
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 11 Nov 2020
Relevant disorders: R211, R209
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R347
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: R363
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R224
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
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, R29
Version 3.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Paediatric disorders, White matter disorders - childhood onset
Signed Off on 13 Feb 2020
Relevant disorders: R331
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R96
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: R139
Version 1.19
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: R42
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 18 Feb 2020
Version 2.2
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 13 Feb 2020
Relevant disorders: R82
Version 2.4
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Neuromuscular disorders
Signed Off on 2 Mar 2020
Relevant disorders: R158
Version 2.4
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: R324
Version 1.3
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: Long QT, R127
Version 2.20
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cardiac arrhythmias, Sudden cardiac death
Signed Off on 20 Aug 2020
Relevant disorders: R276
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 18 Feb 2020
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cerebral malformations
Signed Off on 25 Feb 2020
Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis, Primary membranoproliferative glomerulonephritis, R197
Version 2.13
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 16 Oct 2020
Relevant disorders: R353
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 17 Feb 2020
Relevant disorders: R354
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 17 Feb 2020
Relevant disorders: R355
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 17 Feb 2020
Relevant disorders: R356
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 17 Feb 2020
Relevant disorders: R357
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 17 Feb 2020
Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features
Version 2.4
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: White matter disorders - childhood onset
Signed Off on 17 Feb 2020
Relevant disorders: R352
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 17 Feb 2020
Relevant disorders: R317
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 17 Feb 2020
Relevant disorders: R141
Version 2.2
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 25 Feb 2020
Relevant disorders: R327
Version 1.3
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: R230
Version 1.3
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: Renal tract calcification (or Nephrolithiasis or nephrocalcinosis), Renal tract calcification (or Nephrolithiasis/nephrocalcinosis), R256
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 13 Feb 2020
Relevant disorders: R58, Adult onset neurodegenerative disorder
Version 2.178
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 5 Aug 2021
Version 1.5
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, Paediatric disorders, Rare multisystem ciliopathy Super panel
Signed Off on 4 Mar 2020
Version 1.4
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cerebral malformations
Signed Off on 4 Mar 2020
Relevant disorders: Other rare neuromuscular disorders, R381
Version 5.43
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R231
Version 1.3
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
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 1.3
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 19 Feb 2020
Relevant disorders: Inherited optic neuropathies, R41, R42.2
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: Osteogenesis Imperfecta, R102
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 13 Feb 2020
Relevant disorders: R104.4
Version 1.1
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 21 Sept 2020
Relevant disorders: Acutely unwell children with a likely monogenic disorder, Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R14, R27
Version 14.43
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 4 Mar 2020
Version 1.1
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Paediatric disorders
Signed Off on 11 Feb 2020
Version 1.30
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Neuromuscular disorders
Signed Off on 4 Mar 2020
Relevant disorders: R166
Version 1.3
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: R175
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: Paroxysmal neurological disorders, pain disorders and sleep disorders, R66
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 27 Feb 2020
Relevant disorders: R236
Version 1.4
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Relevant disorders: R159
Version 2.2
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: Familial Pneumothorax, Familial Primary Spontaneous Pneumothorax, R190
Version 2.17
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: R173
Version 1.4
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R63
Version 1.17
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 11 Nov 2020
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, R15
Version 2.1
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 24 Feb 2020
Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease, R136
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 2 Mar 2020
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 1.5
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Sudden cardiac death
Signed Off on 20 Aug 2020
Relevant disorders: R195
Version 2.32
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 16 Oct 2020
Relevant disorders: PAH, R188
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 2 Mar 2020
Relevant disorders: R316
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 17 Feb 2020
Relevant disorders: R92
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: R332
Version 1.6
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
Version 4.21
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 4 Mar 2020
Version 1.2
Panel Types: GMS Rare Disease, 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 4 Mar 2020
Relevant disorders: Renal tubular acidosis, R198
Version 2.23
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 16 Oct 2020
Relevant disorders: R189
Version 1.3
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 2 Mar 2020
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, R32, R33, R34, R35, Possible X-linked retinitis pigmentosa, Sorsby retinal dystrophy, Doyne retinal dystrophy
Version 2.195
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 5 Aug 2021
Relevant disorders: R358
Version 1.2
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Version 1.34
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Hypotonic infant, Neuromuscular disorders
Signed Off on 4 Mar 2020
Version 1.2
Panel Types: GMS Cancer Germline Virtual, GMS signed-off
Signed Off on 18 Feb 2020
Relevant disorders: Regional overgrowth disorders, R110
Version 2.1
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Signed Off on 24 Feb 2020
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 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 18 Feb 2020
Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum, Severe microcephaly, R88
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Signed Off on 2 Mar 2020
Relevant disorders: R130
Version 2.4
Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: Cardiac arrhythmias, Sudden cardiac death
Signed Off on 20 Aug 2020
Version 1.2
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 19 Feb 2020
Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia, R104
Version 2.2
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 13 Feb 2020
Relevant disorders: R76, Myotonia congenita
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 2 Mar 2020
Relevant disorders: R45
Version 2.2
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: R36
Version 1.3
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: Molecular autopsy, R138, R408
Version 9.78
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020
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: R125
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS signed-off
Signed Off on 19 Feb 2020
Relevant disorders: R406
Version 1.1
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 30 Sept 2020
Relevant disorders: R97
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 3 Mar 2020
Relevant disorders: R202
Version 1.3
Panel Types: GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
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, R359
Version 2.5
Panel Types: Rare Disease 100K, GMS Rare Disease, GMS Cancer Germline Virtual, GMS signed-off
Signed Off on 4 Mar 2020
Relevant disorders: R257
Version 1.2
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 4 Mar 2020
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: R62, Adult onset leukodystrophy
Version 1.25
Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 5 Aug 2021
Relevant disorders: Childhood onset leukodystrophy, R109
Version 6.20
Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Signed Off on 4 Mar 2020
Version 1.12
Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off
Component of the following Super Panels: White matter disorders - childhood onset
Signed Off on 2 Mar 2020
Relevant disorders: Cockayne and Xeroderma Pigmentosum-like disorders, Cockayne syndrome, Xeroderma Pigmentosum-like disorders, XP-like disorders, R227
Version 2.7
Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Signed Off on 15 Oct 2020