Glaucoma (developmental)

Gene: MKS1

Red List (low evidence)

Wheway: mouse model frequently has anophthalmia/microphthalmia, however, in humans variants have ciliopathy phenotype without structural eye disease

Created: 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

• 23454480

Red List (low evidence)

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 disease

Created: 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

• 23454480

Variants in this GENE are reported as part of current diagnostic practice