Miscellaneous Metabolic Disorders
Gene: ALDH4A1EnsemblGeneIds (GRCh38): ENSG00000159423
EnsemblGeneIds (GRCh37): ENSG00000159423
OMIM: 606811, Gene2Phenotype
ALDH4A1 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 4 unrelated cases reported. Biallelic variants cause an inborn error or ornithine/proline metabolism.
Sources: NHS GMSCreated: 25 Jan 2021, 12:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline 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
-
- Hyperprolinemia, type II MIM#239510
- disorders of ornithine or proline metabolism
- OMIM
- 606811
- Clinvar variants
- Variants in ALDH4A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aldh4a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aldh4a1 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: ALDH4A1 was added gene: ALDH4A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH4A1 were set to 9700195; 31884946 Phenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism Review for gene: ALDH4A1 was set to GREEN gene: ALDH4A1 was marked as current diagnostic