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  3. ALDH6A1
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Aminoacidopathy

Gene: ALDH6A1

Green List (high evidence)
ALDH6A1 (aldehyde dehydrogenase 6 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000119711
EnsemblGeneIds (GRCh37): ENSG00000119711
OMIM: 603178, Gene2Phenotype
ALDH6A1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 5 unrelated cases reported. Inborn error of valine and pyrimidine catabolism.
Sources: NHS GMS
Created: 25 Jan 2021, 12:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism

Publications

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

Created: 25 Jan 2021, 12:38 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579
OMIM
603178
Clinvar variants
Variants in ALDH6A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aldh6a1 has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ALDH6A1 were set to 29152456

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aldh6a1 has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ALDH6A1 was added gene: ALDH6A1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH6A1 were set to 29152456 Phenotypes for gene: ALDH6A1 were set to methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579