Structural eye disease
Gene: MKS1
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
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
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
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