Genomics England

MKS1

Meckel syndrome, type 1

Panel	Mode of inheritance	Details
Filter panels13 panels
Green in Bardet Biedl syndrome R-numbers: R107 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 13, 615990, Meckel syndrome 1, 249000, Joubert syndrome 28, 617121
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Meckel syndrome 1, 249000, MKS1, Meckel-Gruber Syndrome (MGS)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MECKEL SYNDROME TYPE 1 249000, BARDET-BIEDL SYNDROME TYPE 13 209900
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BARDET-BIEDL SYNDROME TYPE 13, MECKEL SYNDROME TYPE 1
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MECKEL SYNDROME TYPE 1 (MKS1)
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000, Joubert syndrome 28, 617121, Polydactyly
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes occipital encephalocele, Joubert syndrome, Bardet-Biedl syndrome, Joubert syndrome 28, 249000, polydactyly, polycystic kidneys, Meckel-Gruber syndrome, Meckel syndrome, renal fibrosis
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes occipital encephalocele, Joubert syndrome, Bardet-Biedl syndrome, Joubert syndrome 28, 249000, polydactyly, polycystic kidneys, Meckel-Gruber syndrome, Meckel syndrome, renal fibrosis
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes occipital encephalocele, Joubert syndrome, Bardet-Biedl syndrome, Joubert syndrome 28, 249000, polydactyly, polycystic kidneys, Meckel-Gruber syndrome, Meckel syndrome, renal fibrosis
Green in Retinal disorders R-numbers: R32 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders
Green in Severe early-onset obesity R-numbers: R149 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Obesity, Bardet-Biedl syndrome 13, OMIM:615990
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Meckel syndrome 1 249000, Bardet-Biedl syndrome 13 615990
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ciliopathy genes associated with cystic kidney disease, Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000