Leukodystrophy - paediatric
Gene: ACBD5

ACBD5 (acyl-CoA binding domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000107897
EnsemblGeneIds (GRCh37): ENSG00000107897
OMIM: 616618, Gene2Phenotype
ACBD5 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

One family and one case with a phenotype that includes leukodystrophy as a prominent feature of the condition, and in vitro functional assays demonstrating ACBD5 deficiency shares similarities with other peroxisomal single enzyme deficiencies.
Sources: Expert list
Created: 17 Jan 2020, 9:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy

Publications

Created: 17 Jan 2020, 9:49 a.m.

Panel version: 0.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Progressive leukodystrophy
syndromic cleft palate
ataxia
retinal dystrophy

OMIM

616618

Clinvar variants

Variants in ACBD5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acbd5 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes