Structural eye disease
Gene: MKS1EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Wheway: mouse model frequently has anophthalmia/microphthalmia, however, in humans variants have ciliopathy phenotype without structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 13; Meckel syndrome 1; 615990; 249000
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Wheway: mouse model frequently has anophthalmia/microphthalmia, however, in humans variants have ciliopathy phenotype without structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Bardet-Biedl syndrome 13, 615990
- Meckel syndrome 1, 249000
- Eye Disorders
- OMIM
- 609883
- Clinvar variants
- Variants in MKS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial Neural Tube Defects
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Fetal anomalies
- Clefting
- Severe early-onset obesity
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MKS1. Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000 for gene: MKS1 Publications for gene MKS1 were changed from to 23454480
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MKS1 was added gene: MKS1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MKS1 was set to Phenotypes for gene: MKS1 were set to Eye Disorders