Peroxisomal disorders
Gene: ACBD5
Comment on list classification: There is are sufficient unrelated cases (4) to support a diagnostic-grade classification (Green)Created: 21 Apr 2021, 9:25 a.m. | Last Modified: 21 Apr 2021, 9:27 a.m.
Panel Version: 1.11
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, 9:19 a.m. | Last Modified: 21 Apr 2021, 9:19 a.m.
Panel Version: 1.7
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, 9:19 a.m. | Last Modified: 21 Apr 2021, 9:19 a.m.
Panel Version: 1.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy with leukodystrophy, OMIM:618863
Publications
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 patient girl 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 retinal dystrophy.
Sources: Expert listCreated: 20 Jul 2020, 8:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy with leukodystrophy (MIM#618863)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: ACBD5 were set to 27799409; 23105016; 33427402
Tag Q2_21_rating was removed from gene: ACBD5.
Gene: acbd5 has been classified as Green List (High Evidence).
Phenotypes for gene: ACBD5 were changed from Retinal dystrophy with leukodystrophy (MIM#618863) to Retinal dystrophy with leukodystrophy, OMIM:618863
Publications for gene: ACBD5 were set to 27799409; 23105016
Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: ACBD5.
gene: ACBD5 was added gene: ACBD5 was added to Peroxisomal disorders. Sources: Expert list Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD5 were set to 27799409; 23105016 Phenotypes for gene: ACBD5 were set to Retinal dystrophy with leukodystrophy (MIM#618863) Review for gene: ACBD5 was set to GREEN gene: ACBD5 was marked as current diagnostic