White matter disorders and cerebral calcification - narrow panel
Gene: ACBD5
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment on list classification: There is are sufficient unrelated cases (3) to support a diagnostic-grade classification (Green) at the next GMS panel updateCreated: 21 Apr 2021, 9:57 a.m. | Last Modified: 21 Apr 2021, 9:57 a.m.
Panel Version: 1.40
At least 3 unrelated families reported to date with white matter disease due to biallelic variants in this gene. Supporting in vitro functional assays demonstrating ACBD5 deficiency leading to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation
- PMID: 23105016 (2013): Three siblings of a Saudi family with a truncating variant in ACBD5 (c.1205‐1G>A, p.Gly402Aspfs5*) and cone‐rod dystrophy, developmental delay, spastic paraparesis, and white matter disease
- PMID: 27799409 (2017): Single individual who presented with progressive leukodystrophy, cleft palate, ataxia and retinal dystrophy. Targeted sequencing revealed a homozygous variant in ACBD5 (c.626-689_937-234delins936+1075_c.936+1230inv, p.D208Vfs*30). Functional assay supports ACBD5 deficiency leads to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation
- PMID: 33427402 (2021): 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, 9:55 a.m. | Last Modified: 21 Apr 2021, 9:55 a.m.
Panel Version: 1.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy with leukodystrophy, OMIM:618863
Publications
Tag Q2_21_rating was removed from gene: ACBD5.
Source NHS GMS was added to ACBD5. Source Expert Review Green was added to ACBD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: ACBD5 were changed from Retinal dystrophy with leukodystrophy, OMIM:618863 to Retinal dystrophy with leukodystrophy, OMIM:618863
Publications for gene: ACBD5 were set to 23105016; 27899449; 27799409; 33427402
Publications for gene: ACBD5 were set to 27799409, 27899449, 23105016
Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy, OMIM:618863
Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: ACBD5.
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: ACBD5 was added gene: ACBD5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD5 were set to 27799409, 27899449, 23105016