Ichthyosis and erythrokeratoderma
Gene: ALDH3A2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 12:31 p.m. | Last Modified: 9 Mar 2022, 12:31 p.m.
Panel Version: 1.71
Comment on list classification: New gene added by Denise Williams (BWC_NHS). Ichthyosis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). Cutaneous abnormalities are often the first clinical sign to be noted. There are sufficient unrelated cases (>3) to rate as Green at the next GMS panel update.Created: 24 Aug 2021, 3:53 p.m. | Last Modified: 24 Aug 2021, 4:01 p.m.
Panel Version: 1.64
This is a well-recognised multi-systemic condition that can present with congenital ichthyosis. Early diagnosis is important to monitor other aspects of the condition.
Sources: Expert ReviewCreated: 23 Jul 2020, 1:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital ichthyosis; intellectual disability; spastic diplegia, ocular anomalies.
Publications
Tag Q3_21_rating was removed from gene: ALDH3A2. Tag Q3_21_NHS_review 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)
Tag Q3_21_NHS_review tag was added to gene: ALDH3A2.
Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: ALDH3A2.
gene: ALDH3A2 was added gene: ALDH3A2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 9829906; 16476818; 25784589; 27547594; 29071827; 29183715; 29375833; 29704247; 30157790; 30403285; 31273323; 31388754; 31944864; 32930514; 34082469; 34315315 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, OMIM:270200 Penetrance for gene: ALDH3A2 were set to Complete