Autosomal recessive congenital ichthyosis

Gene: ALDH3A2

No list

ALDH3A2 (aldehyde dehydrogenase 3 family member A2)
EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 15 panels

1 review

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

Green List (high evidence)

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 Review
Created: 23 Jul 2020, 1:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital ichthyosis; intellectual disability; spastic diplegia, ocular anomalies.

Publications

History Filter Activity

23 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

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