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  3. ACBD5
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Ataxia - paediatric

Gene: ACBD5

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high 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.
Created: 6 Feb 2021, 4:10 a.m. | Last Modified: 6 Feb 2021, 4:10 a.m.
Panel Version: 0.6240

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy with leukodystrophy, MIM# 618863

Publications

Created: 6 Feb 2021, 4:10 a.m.
Last Modified: 6 Feb 2021, 4:10 a.m.
Panel version: Imported from Mendeliome panel version 0.6240

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 unrelated families and no functional evidence linking the gene to an ataxia phenotype
Sources: Expert list
Created: 27 Dec 2019, 3:57 a.m. | Last Modified: 17 Jan 2020, 9:59 a.m.
Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy

Publications

Created: 27 Dec 2019, 3:57 a.m.
Last Modified: 17 Jan 2020, 9:59 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy
  • syndromic cleft palate
  • ataxia
  • retinal dystrophy
OMIM
616618
Clinvar variants
Variants in ACBD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acbd5 has been classified as Amber List (Moderate Evidence).

27 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acbd5 has been classified as Amber List (Moderate Evidence).

27 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

27 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACBD5 was added gene: ACBD5 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD5 were set to 27799409; 23105016 Phenotypes for gene: ACBD5 were set to Leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy Review for gene: ACBD5 was set to AMBER