Inherited white matter disorders

Gene: ACBD5

Red List (low evidence)

ACBD5 (acyl-CoA binding domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000107897
EnsemblGeneIds (GRCh37): ENSG00000107897
OMIM: 616618, Gene2Phenotype
ACBD5 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated families reported in the literature, plus functional evidence. Another variant in ClinVar. Consider Amber if not Green.
Created: 23 Jul 2018, 6:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
OMIM
616618
Clinvar variants
Variants in ACBD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: acbd5 has been classified as Red List (Low Evidence).

23 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

ACBD5 was added to Inherited white matter disorders panel. Sources: Literature

23 Jul 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

ACBD5 was created by Zornitza Stark