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Fetal anomalies

Gene: ALDH3A2

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Presentation is typically post-natal with ichthyosis and developmental delay, no significant association with multiple congenital anomalies.
Created: 3 Nov 2021, 8:12 p.m. | Last Modified: 3 Nov 2021, 8:12 p.m.
Panel Version: 0.90

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

History Filter Activity

3 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aldh3a2 has been classified as Red List (Low Evidence).

3 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALDH3A2 were changed from SJOEGREN-LARSSON SYNDROME to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability

3 Nov 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALDH3A2 were set to

3 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aldh3a2 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALDH3A2 was added gene: ALDH3A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME