Aminoacidopathy
Gene: ACSF3EnsemblGeneIds (GRCh38): ENSG00000176715
EnsemblGeneIds (GRCh37): ENSG00000176715
OMIM: 614245, Gene2Phenotype
ACSF3 is in 7 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene disease association with reported individuals showing evidence of biochemical abnormalities however some individuals do not show any other phenotypic abnormalities.
LoF is the mechanism of disease.
Definitive classification by ClinGen Aminoacidopathy GCEP on 09/10/2020 - https://search.clinicalgenome.org/CCID:004033
Sources: ClinGenCreated: 20 May 2024, 6:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
combined malonic and methylmalonic acidemia MONDO:0013661
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- combined malonic and methylmalonic acidemia MONDO:0013661
- OMIM
- 614245
- Clinvar variants
- Variants in ACSF3
- 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: acsf3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acsf3 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: ACSF3 was added gene: ACSF3 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 21785126, 26915364, 30740739, 26827111, 27604308, 21841779 Phenotypes for gene: ACSF3 were set to combined malonic and methylmalonic acidemia MONDO:0013661 Review for gene: ACSF3 was set to GREEN