Cerebral Palsy
Gene: ALDH7A1
ALDH7A1 (aldehyde dehydrogenase 7 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000164904
EnsemblGeneIds (GRCh37): ENSG00000164904
OMIM: 107323, Gene2Phenotype
ALDH7A1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000164904
EnsemblGeneIds (GRCh37): ENSG00000164904
OMIM: 107323, Gene2Phenotype
ALDH7A1 is in 13 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with compound heterozygous varianta reported in a monocentric cohort study (PMID: 39213953). Clinically, spastic CP with mild hypertonia, ASD, ADHD, epilepsy not reported. Movement disorders, including CP in one case, are reported in one study of young adults with PDE-ALDH7A1 (PMID: 35782612).
Sources: LiteratureCreated: 2 Sep 2024, 7:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, pyridoxine-dependent, MIM#266100
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Epilepsy, pyridoxine-dependent, MIM#266100
- OMIM
- 107323
- Clinvar variants
- Variants in ALDH7A1
- Penetrance
- None
- Publications
-
- PMID: 39213953
- 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
24 Oct 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aldh7a1 has been classified as Red List (Low Evidence).
24 Oct 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aldh7a1 has been classified as Red List (Low Evidence).
2 Sep 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: ALDH7A1 was added gene: ALDH7A1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH7A1 were set to PMID: 39213953 Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM#266100 Review for gene: ALDH7A1 was set to RED