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  3. ACBD5
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Syndromic Retinopathy

Gene: ACBD5

Green List (high 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)

PMID 33427402: additional report of 36 year old female with retinal dystrophy, leukodystrophy, and psychomotor regression that started at 3 years old and a novel homozygous variant in ACBD5 (c.1467G>A, p.Trp489*).
Created: 23 Apr 2021, 12:23 a.m. | Last Modified: 23 Apr 2021, 12:23 a.m.
Panel Version: 0.164
2 families reported and supporting in vitro functional assays demonstrating ACBD5 deficiency leading to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation

PMID: 27799409: 1 patient girl who presented with progressive leukodystrophy, syndromic cleft palate, ataxia and retinal dystrophy. Functional assay supports ACBD5 deficiency leads to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation

PMID: 23105016: 1 family retinal dystrophy.
Created: 9 Oct 2020, 10:37 a.m. | Last Modified: 9 Oct 2020, 10:37 a.m.
Panel Version: 0.92

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy with leukodystrophy (MIM#618863)

Publications

Created: 9 Oct 2020, 10:37 a.m.
Last Modified: 9 Oct 2020, 10:37 a.m.
Panel version: 0.164

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: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert list
Phenotypes
  • Retinal dystrophy with leukodystrophy (MIM#618863)
OMIM
616618
Clinvar variants
Variants in ACBD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACBD5 were set to 23105016; 27799409

9 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy (MIM#618863)

9 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACBD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

19 May 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ACBD5 were set to

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: ACBD5 was added gene: ACBD5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: ACBD5 was set to Unknown