Clefting
Gene: ACBD5
ACBD5 (acyl-CoA binding domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000107897
EnsemblGeneIds (GRCh37): ENSG00000107897
OMIM: 616618, Gene2Phenotype
ACBD5 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000107897
EnsemblGeneIds (GRCh37): ENSG00000107897
OMIM: 616618, Gene2Phenotype
ACBD5 is in 6 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Retinal dystrophy with leukodystrophy, OMIM:618863
- OMIM
- 616618
- Clinvar variants
- Variants in ACBD5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
21 Apr 2021, Gel status: 1
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: acbd5 has been classified as Red List (Low Evidence).
21 Apr 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ACBD5 were changed from Cleft palate to Retinal dystrophy with leukodystrophy, OMIM:618863
21 Apr 2021, Gel status: 1
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ACBD5 were set to
21 Apr 2021, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ACBD5 was changed from to BIALLELIC, autosomal or pseudoautosomal
13 Aug 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ACBD5 was added to Clefting panel. Sources: Victorian Clinical Genetics Services
13 Aug 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)ACBD5 was created by Ellen McDonagh