Structural eye disease
Gene: POMGNT1
Demir reported case with muscle-eye-brain disease and homozygous missense - heterozygous in parents. Hanemaaijer reported de novo microduplication involving POMGNT1 among other genes in patient with coloboma and microcephaly. Lu: homozygous deletion of exon18-19 in case with microphthalmia, heterozygous in parents. Yoshida reported two cases with microphthalmia, one with compound het missense/frameshift, segregation not reported, and one with homozygous splice site variant. Borisovna reported a patient with optic nerve dysplasia compound heterozygous for splice site & missense variant segregating in parents. Borisovna et al reported case with optic atrophy and a heterozygous splice site variant/missense variants segregating in the parents.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3
Source Expert Review Green was added to POMGNT1. Source NHS GMS was added to POMGNT1. Publications for gene POMGNT1 were changed from to 0961548; 19452620; 28765568; 11709191; 19679478 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source Expert Review Amber was added to POMGNT1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: POMGNT1 was added gene: POMGNT1 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3, 253280