Aminoacidopathy
Gene: ALDH4A1EnsemblGeneIds (GRCh38): ENSG00000159423
EnsemblGeneIds (GRCh37): ENSG00000159423
OMIM: 606811, Gene2Phenotype
ALDH4A1 is in 7 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Definitive on 23/10/2020 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004094
Well reported gene-disease association in individuals with abnormal biochemistry. Most individuals present with elevated P5C levels
Sources: ClinGenCreated: 22 May 2024, 7:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hyperprolinemia type 2 MONDO:0009401
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- hyperprolinemia type 2 MONDO:0009401
- OMIM
- 606811
- Clinvar variants
- Variants in ALDH4A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aldh4a1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ALDH4A1 were set to 2624476, 13835167, 4369405, 8621661
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aldh4a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: ALDH4A1 was added gene: ALDH4A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH4A1 were set to 2624476, 13835167, 4369405, 8621661 Phenotypes for gene: ALDH4A1 were set to hyperprolinemia type 2 MONDO:0009401 Review for gene: ALDH4A1 was set to GREEN