Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal 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

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is are now sufficient unrelated cases (4) of retinal dystrophy in patients with biallelic ACBD5 variants to promote this gene to Green at the next GMS panel update.
Created: 21 Apr 2021, 9:05 a.m. | Last Modified: 21 Apr 2021, 9:05 a.m.
Panel Version: 2.183
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 a.m. | Last Modified: 21 Apr 2021, 9 a.m.
Panel Version: 2.182
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, 8:59 a.m. | Last Modified: 21 Apr 2021, 8:59 a.m.
Panel Version: 2.182

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy with leukodystrophy, OMIM:618863

Publications

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:43 a.m. | Last Modified: 8 Mar 2022, 10:43 a.m.
Panel Version: 2.245
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. As there are only 2 reported cases there is not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Created: 6 Jan 2021, 11:36 a.m. | Last Modified: 6 Jan 2021, 11:36 a.m.
Panel Version: 2.42
Comment on publications: Previous Publications comment:
Abu-Safieh et al Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb;23(2):236-47 PMID: 23105016
Created: 6 Jan 2021, 11:34 a.m. | Last Modified: 6 Jan 2021, 11:34 a.m.
Panel Version: 2.41
Comment on phenotypes: Previous Phenotypes comment: No OMIM disease ID; novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement
Created: 6 Jan 2021, 11:32 a.m. | Last Modified: 6 Jan 2021, 11:32 a.m.
Panel Version: 2.40

Zornitza Stark (Australian Genomics)

I don't know

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 individual 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 with retinal dystrophy.
Created: 10 Oct 2020, 5:15 a.m. | Last Modified: 10 Oct 2020, 5:15 a.m.
Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy with leukodystrophy (MIM#618863)

Publications

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

I don't know

Single report only
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
Comment when marking as ready: Not enough evidence to date: single family report found in a literature search (PMID: 23105016). Two articles reporting an association with thrombocytopenia.
Created: 1 Jun 2016, 9:39 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinal dystrophy with leukodystrophy, OMIM:618863, MONDO:0030026
OMIM
616618
Clinvar variants
Variants in ACBD5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ACBD5.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ACBD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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: 2

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: ACBD5. Tag Q2_21_rating tag was added to gene: ACBD5.

6 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: ACBD5.

6 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

6 Jan 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ACBD5 were set to Abu-Safieh et al Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb; 23(2):236-47 PMID: 23105016

6 Jan 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ACBD5 were changed from No OMIM disease ID; novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement to Retinal dystrophy with leukodystrophy, OMIM:618863, MONDO:0030026

6 Jan 2021, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ACBD5.

1 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ACBD5 were set to Abu-Safieh et al Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb; 23(2):236-47 PMID: 23105016

1 Jun 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ACBD5 were set to No OMIM disease ID; novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement

1 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ACBD5 were set to PMID: 23105016; Abu-Safieh et al Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb;23(2):236-47 PMID: 23105016

15 Mar 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ACBD5 were set to PMID: 23105016

15 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ACBD5 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACBD5 was created by ellenmcdonagh