Clefting
Gene: ACBD5Comment on list classification: Only a single patient reported with a cleft palate to date, and therefore rating Red on this panel.Created: 21 Apr 2021, 10:05 a.m. | Last Modified: 21 Apr 2021, 10:05 a.m.
Panel Version: 2.28
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, 4:07 a.m. | Last Modified: 6 Feb 2021, 4:07 a.m.
Panel Version: 2.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy with leukodystrophy, MIM# 618863
Publications
Gene: acbd5 has been classified as Red List (Low Evidence).
Phenotypes for gene: ACBD5 were changed from Cleft palate to Retinal dystrophy with leukodystrophy, OMIM:618863
Publications for gene: ACBD5 were set to
Mode of inheritance for gene: ACBD5 was changed from to BIALLELIC, autosomal or pseudoautosomal
ACBD5 was added to Clefting panel. Sources: Victorian Clinical Genetics Services
ACBD5 was created by Ellen McDonagh