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  3. ALDH3A2
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Ichthyosis

Gene: ALDH3A2

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ichthyosis is a prominent feature of the condition, and >30 biallelic variant carriers have been reported
Sources: Expert list
Created: 31 Jan 2020, 12:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability

Publications

Created: 31 Jan 2020, 12:13 a.m.

Panel version: 0.8

History Filter Activity

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aldh3a2 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aldh3a2 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ALDH3A2 was added gene: ALDH3A2 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 31273323 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability Review for gene: ALDH3A2 was set to GREEN