Autosomal recessive congenital ichthyosis
Gene: ALDH3A2Comment 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 on this panel.Created: 24 Aug 2021, 3:53 p.m. | Last Modified: 24 Aug 2021, 3:53 p.m.
Panel Version: 1.13
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
Gene: aldh3a2 has been classified as Green List (High Evidence).
Publications for gene: ALDH3A2 were set to 31273323; 27547594; 9829906
Phenotypes for gene: ALDH3A2 were changed from congenital ichthyosis; intellectual disability; spastic diplegia, ocular anomalies. to Sjogren-Larsson syndrome, OMIM:270200
gene: ALDH3A2 was added gene: ALDH3A2 was added to Autosomal recessive congenital ichthyosis. Sources: Expert Review Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 31273323; 27547594; 9829906 Phenotypes for gene: ALDH3A2 were set to congenital ichthyosis; intellectual disability; spastic diplegia, ocular anomalies. Penetrance for gene: ALDH3A2 were set to Complete Review for gene: ALDH3A2 was set to GREEN