Structural eye disease
Gene: POMT1
Bernabe 3 families with microphthalmia among 7 families with Walker-Warburg syndrome, one with homozygous missense, one with homozygous nonsense, one with compound het missense/frameshift. Three other families described have buphthalmos, lens opacities and/or cataracts. All variants segregate. Kim one case with microphthalmia with homozygous in-frame deletion.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
DB Bernabe 2 families, Kim one familyCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, MDDGA1
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Bernabe 2 families, Kim one familyCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Publications
Publications for gene POMT1 were changed from 15037715; 12369018 to 12369018; 15037715
Source London North GLH was added to POMT1.
gene: POMT1 was added gene: POMT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 15037715; 12369018 Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670