Miscellaneous Metabolic Disorders
Gene: ALDH6A1EnsemblGeneIds (GRCh38): ENSG00000119711
EnsemblGeneIds (GRCh37): ENSG00000119711
OMIM: 603178, Gene2Phenotype
ALDH6A1 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 5 unrelated cases reported. Inborn error of valine and pyrimidine catabolism.
Sources: NHS GMSCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105
- disorder of valine and pyrimidine metabolism
- OMIM
- 603178
- Clinvar variants
- Variants in ALDH6A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aldh6a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aldh6a1 has been classified as Green List (High Evidence).
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 Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH6A1 were set to 32151545; 10947204; 21863277; 23835272 Phenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism Review for gene: ALDH6A1 was set to GREEN gene: ALDH6A1 was marked as current diagnostic