Autosomal recessive congenital ichthyosis
Gene: ALDH3A2EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
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 on this panel.Created: 24 Aug 2021, 3:53 p.m. | Last Modified: 24 Aug 2021, 3:53 p.m.
Panel Version: 1.13
Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Sjogren-Larsson syndrome, OMIM:270200
- OMIM
- 609523
- Clinvar variants
- Variants in ALDH3A2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Retinal disorders
- Hereditary neuropathy
- Fetal anomalies
- Autosomal recessive congenital ichthyosis
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Palmoplantar keratodermas
- Likely inborn error of metabolism
- Inherited white matter disorders
- Adult onset leukodystrophy
- Intellectual disability
- Ichthyosis and erythrokeratoderma
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: aldh3a2 has been classified as Green List (High Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ALDH3A2 were set to 31273323; 27547594; 9829906
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ALDH3A2 were changed from congenital ichthyosis; intellectual disability; spastic diplegia, ocular anomalies. to Sjogren-Larsson syndrome, OMIM:270200
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