Palmoplantar keratodermas
Gene: ALDH3A2

ALDH3A2 (aldehyde dehydrogenase 3 family member A2)
EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ALDH3A2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Jan 2019, 10:47 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Green

Phenotypes

Sjogren-Larsson syndrome, OMIM:270200

OMIM

609523

Clinvar variants

Variants in ALDH3A2

Penetrance

None

Panels with this gene

History Filter Activity

24 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome to Sjogren-Larsson syndrome, OMIM:270200

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to ALDH3A2.

28 Jan 2019, Gel status: 4

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