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Newborns main panel

Gene: ACADVL

Green List (high evidence)
ACADVL (acyl-CoA dehydrogenase very long chain)
EnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 15 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to ACADVL Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50048/
Created: 25 Sep 2024, 11:24 a.m. | Last Modified: 25 Sep 2024, 11:25 a.m.
Panel Version: 0.469
Created: 25 Sep 2024, 11:24 a.m.
Last Modified: 25 Sep 2024, 11:25 a.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
ACADVL curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: ACADVL.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes VLCAD deficiency for gene: ACADVL

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes VLCAD deficiency for gene: ACADVL

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes VLCAD deficiency for gene: ACADVL

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes VLCAD deficiency for gene: ACADVL

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes VLCAD deficiency for gene: ACADVL

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ACADVL was added gene: ACADVL was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal