Clefting disorders
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism.

Three unrelated individuals reported, of whom one had cleft palate -- uncertain if this is a feature of the disorder.
Created: 6 Feb 2021, 4:08 a.m. | Last Modified: 6 Feb 2021, 4:08 a.m.

Panel Version: 0.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy with leukodystrophy, MIM# 618863

Publications

Created: 6 Feb 2021, 4:08 a.m.
Last Modified: 6 Feb 2021, 4:08 a.m.
Panel version: 0.52

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Retinal dystrophy with leukodystrophy, MIM# 618863
Cleft palate

OMIM

616618

Clinvar variants

Variants in ACBD5

Penetrance

None

Publications

Panels with this gene