Fatty Acid Oxidation Defects
Gene: ACADLEnsemblGeneIds (GRCh38): ENSG00000115361
EnsemblGeneIds (GRCh37): ENSG00000115361
OMIM: 609576, Gene2Phenotype
ACADL is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single variant (p.Lys333Gln) reported in the literature as disease-causing. However, this variant found in gnomAD at an overall frequency of 0.2988 with 13,419 homozygotes, suggesting it is a common polymorphism rather than a disease-causing variant. Additionally, the substrate specificity of LCAD (long chain acyl-CoAs, 14–20 carbons in length) overlaps with VLCAD and ACAD9, further supporting the Disputed classification for a FAO disorder.Created: 29 Jul 2020, 12:55 a.m. | Last Modified: 29 Jul 2020, 12:55 a.m.
Panel Version: 0.10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pulmonary surfactant dysfunction
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Pulmonary surfactant dysfunction
- Tags
- OMIM
- 609576
- Clinvar variants
- Variants in ACADL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: ACADL.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acadl has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ACADL were changed from to Pulmonary surfactant dysfunction
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ACADL were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ACADL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acadl has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ACADL was added gene: ACADL was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACADL was set to Unknown