Retinal disordersGene: ALDH3A2
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:43 a.m. | Last Modified: 8 Mar 2022, 10:43 a.m.
Panel Version: 2.245
Comment on list classification: There are sufficient unrelated cases (>3) with retinal abnormalities associated with variants in this gene to warrant a Green rating at the next GMS panel update.
Created: 24 Aug 2021, 4 p.m. | Last Modified: 24 Aug 2021, 4 p.m.
Panel Version: 2.206
Biallelic variants in this gene are associated with Sjogren-Larsson syndrome (MIM# 270200). Some affected individuals exhibit ocular manifestations which include a distinctive retinal abnormality characterised by macular degeneration with perifoveal crystalline inclusions (also referred to as glistening white dots) which develop in the first few years of life. There are also some reports of patients with retinal pigmentary degeneration in the macular region and thinning of the retinal layers.
Created: 24 Aug 2021, 3:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sjogren-Larsson syndrome, OMIM:270200
Tag Q3_21_rating was removed from gene: ALDH3A2.
Source Expert Review Green was added to ALDH3A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).
gene: ALDH3A2 was added gene: ALDH3A2 was added to Retinal disorders. Sources: Literature Q3_21_rating tags were added to gene: ALDH3A2. Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 25784589; 29071827; 29183715; 31273323 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, OMIM:270200 Review for gene: ALDH3A2 was set to GREEN