Peroxisomal disorders

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 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is are sufficient unrelated cases (4) to support a diagnostic-grade classification (Green)
Created: 21 Apr 2021, 9:25 a.m. | Last Modified: 21 Apr 2021, 9:27 a.m.
Panel Version: 1.11
A fourth individual was identified by Dr Helen Brittain (Genomics England Clinical Fellow) who presented with retinal dystrophy, ataxia and developmental regression at 2 yrs old
Created: 21 Apr 2021, 9:19 a.m. | Last Modified: 21 Apr 2021, 9:19 a.m.
Panel Version: 1.7
Bartlett et al. 2021 (PMID: 33427402) report on a 36 year old female with retinal dystrophy, leukodystrophy, and psychomotor regression that started at 3 years old due to a novel homozygous variant in ACBD5 (c.1467G>A, p.Trp489*)
Created: 21 Apr 2021, 9:19 a.m. | Last Modified: 21 Apr 2021, 9:19 a.m.
Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy with leukodystrophy, OMIM:618863

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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.
Sources: Expert list
Created: 20 Jul 2020, 8:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy with leukodystrophy (MIM#618863)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ACBD5 were set to 27799409; 23105016; 33427402

21 Apr 2021, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ACBD5.

21 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

21 Apr 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

21 Apr 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ACBD5 were set to 27799409; 23105016

21 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

21 Apr 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: ACBD5.

20 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ACBD5 was added gene: ACBD5 was added to Peroxisomal disorders. 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 Retinal dystrophy with leukodystrophy (MIM#618863) Review for gene: ACBD5 was set to GREEN gene: ACBD5 was marked as current diagnostic