White matter disorders and cerebral calcification - narrow panel

Gene: ACBD5

Green List (high evidence)

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

Green List (high evidence)

Comment on list classification: There is are sufficient unrelated cases (3) to support a diagnostic-grade classification (Green) at the next GMS panel update

Created: 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

• 23105016
• 27799409
• 33427402