Structural eye disease
Gene: ALDH1A3
DB Fares-Taie L, .., Ragge N, Rozet JM (2013) .ALDH1A3 mutations cause recessiveanophthalmia and microphthalmia Am J Hum Genet. Feb 7;92(2):265-70: 3 unrelated families with ALDH1A3 variants, more published since (most recently by Patel et al.)Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, isolated 8 615113
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Fares-Taie L, .., Ragge N, Rozet JM (2013) .ALDH1A3 mutations cause recessiveanophthalmia and microphthalmia Am J Hum Genet. Feb 7;92(2):265-70: 3 unrelated families with ALDH1A3 variants, more published since (most recently by Patel et al.)Created: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, isolated 8 615113
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to ALDH1A3. Added phenotypes Microphthalmia, isolated 8 615113 for gene: ALDH1A3 Publications for gene ALDH1A3 were changed from 24859610; 23591992 to 23591992; 24859610
gene: ALDH1A3 was added gene: ALDH1A3 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A3 were set to 24859610; 23591992 Phenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8 615113