Neurotransmitter disorders
Gene: ALDH7A1
ALDH7A1 (aldehyde dehydrogenase 7 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000164904
EnsemblGeneIds (GRCh37): ENSG00000164904
OMIM: 107323, Gene2Phenotype
ALDH7A1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000164904
EnsemblGeneIds (GRCh37): ENSG00000164904
OMIM: 107323, Gene2Phenotype
ALDH7A1 is in 8 panels
1 review
Zornitza Stark (Australian Genomics)
Well established gene-disease association, condition is considered a disorder of neurotransmitter metabolism by some expert groups: deficiency of antiquitin leads to the buildup of α-aminoadipic semialdehyde, resulting in a disruption in the activity of pyridoxine, which in turn is required for the breakdown of neurotransmitters. Metabolic findings: increased serum and CSF levels of pipecolic acid; increased serum, CSF and urinary levels of alpha-aminoadipic semialdehyde. Treatable disorder.
Sources: Expert listCreated: 24 Aug 2020, 12:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, pyridoxine-dependent, MIM# 266100
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Epilepsy, pyridoxine-dependent, MIM# 266100
- OMIM
- 107323
- Clinvar variants
- Variants in ALDH7A1
- Penetrance
- None
- Panels with this gene
History Filter Activity
24 Aug 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ALDH7A1 was added gene: ALDH7A1 was added to Neurotransmitter disorders. Sources: Expert list Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM# 266100 Review for gene: ALDH7A1 was set to GREEN gene: ALDH7A1 was marked as current diagnostic