Retinal disorders
Gene: ACBD5
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 oldCreated: 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
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: 23105016Created: 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 involvementCreated: 6 Jan 2021, 11:32 a.m. | Last Modified: 6 Jan 2021, 11:32 a.m.
Panel Version: 2.40
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
Single report onlyCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
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.
Tag Q2_21_rating was removed from gene: ACBD5.
Source Expert Review Green was added to ACBD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: ACBD5 were set to 27799409; 23105016
Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Tag watchlist was removed from gene: ACBD5. Tag Q2_21_rating tag was added to gene: ACBD5.
Tag watchlist tag was added to gene: ACBD5.
Gene: acbd5 has been classified as Amber List (Moderate Evidence).
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
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
Mode of inheritance for gene: ACBD5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to ACBD5.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
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
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
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
Publications for ACBD5 were set to PMID: 23105016
This gene has been classified as Amber List (Moderate Evidence).
ACBD5 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
ACBD5 was created by ellenmcdonagh