Structural eye disease
Gene: POMT2
Van Reeuwijk, three families with Walker-Warburg syndrome, one case with Peter's anomaly, congenital cataract and microphthalmia and homozygous nonsense variant. The other cases had congenital cataract (homozygous splice site variant) and cataract/buphthalmos (homozygous frameshift). Nabhan family of four diseased siblings with Walker/Warburg syndrome, oldest sibling had microphthalmia, all siblings have homozygous missense.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
DB Van Reeuwijk: one family. Nabhan one family.Created: 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, 2
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 2, MDDGA2
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Van Reeuwijk: one family. Nabhan one family.Created: 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, 2
Publications
Source Expert Review Green was added to POMT2. Publications for gene POMT2 were changed from 28815891; 15894594 to 15894594; 28815891 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source London North GLH was added to POMT2.
Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
gene: POMT2 was added gene: POMT2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 28815891; 15894594 Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2