Inherited white matter disorders
Gene: ACBD5
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, 10:01 a.m. | Last Modified: 21 Apr 2021, 10:01 a.m.
Panel Version: 1.87
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy with leukodystrophy, OMIM:618863
Publications
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1 p.m.
Two unrelated families reported in the literature, plus functional evidence. Another variant in ClinVar. Consider Amber if not Green.Created: 23 Jul 2018, 6:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 Green List (High Evidence).
Gene: acbd5 has been classified as Red List (Low Evidence).
ACBD5 was added to Inherited white matter disorders panel. Sources: Literature
ACBD5 was created by Zornitza Stark