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Retinal disorders

Gene: ACBD5

Red List (low evidence)

ACBD5 (acyl-CoA binding domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000107897
EnsemblGeneIds (GRCh37): ENSG00000107897
OMIM: 616618, Gene2Phenotype
ACBD5 is in 4 panels

2 reviews

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

Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • No OMIM disease ID
  • novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement
OMIM
616618
Clinvar variants
Variants in ACBD5
Penetrance
Complete
Publications
  • 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
Panels with this gene

History Filter Activity

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: 0

Created

Ellen McDonagh (Genomics England Curator)

ACBD5 was created by ellenmcdonagh

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