Aminoacidopathy
Gene: ALDH7A1EnsemblGeneIds (GRCh38): ENSG00000164904
EnsemblGeneIds (GRCh37): ENSG00000164904
OMIM: 107323, Gene2Phenotype
ALDH7A1 is in 13 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Definitive on 26/07/2019 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004097
Reported in 10 individuals and functional evidence supporting the gene-disease association.
Sources: ClinGenCreated: 22 May 2024, 7:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pyridoxine-dependent epilepsy MONDO:0009945
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- pyridoxine-dependent epilepsy MONDO:0009945
- OMIM
- 107323
- Clinvar variants
- Variants in ALDH7A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cerebral Palsy
- Neurotransmitter Defects
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aldh7a1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ALDH7A1 were set to 19142996, 16491085, 22784480, 29053735
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aldh7a1 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: ALDH7A1 was added gene: ALDH7A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH7A1 were set to 19142996, 16491085, 22784480, 29053735 Phenotypes for gene: ALDH7A1 were set to pyridoxine-dependent epilepsy MONDO:0009945 Review for gene: ALDH7A1 was set to GREEN