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Intellectual disability
Gene: ACBD6

ACBD6 (acyl-CoA binding domain containing 6)
EnsemblGeneIds (GRCh38): ENSG00000230124
EnsemblGeneIds (GRCh37): ENSG00000230124
OMIM: 616352, Gene2Phenotype
ACBD6 is in 7 panels

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.

Panel Version: 7.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 Sep 2024, 2:57 p.m.
Last Modified: 26 Sep 2024, 2:57 p.m.
Panel version: 7.41

Jana Jezkova (All Wales Medical Genomics Service)

I don't know

Limited G2P gene. Evidence curated for analysis of a heterozygous exon 7 deletion detected by SNP array.
PMID: 37951597: Emerging evidence that biallelic variants in ACBD6 cause a neurodevelopmental syndrome. Three individuals from families 23 and 24 with homozygous exon 7 deletion, Moderate GDD/ID.
Three individuals from families 12 and 13 with splice variants resulting in skipping of exon 7, GDD/ID.
Created: 20 Feb 2024, 12:30 p.m. | Last Modified: 20 Feb 2024, 12:30 p.m.

Panel Version: 5.451

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HP:0001263; HP:0001249

Publications

PMID: 37951597

Created: 20 Feb 2024, 12:30 p.m.
Last Modified: 20 Feb 2024, 12:30 p.m.
Panel version: 5.451

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785)
Created: 23 Apr 2024, 1:38 p.m. | Last Modified: 23 Apr 2024, 1:38 p.m.

Panel Version: 5.536

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 17 Jan 2024, 5:22 p.m. | Last Modified: 17 Jan 2024, 5:22 p.m.

Panel Version: 5.405

- PMID: 21937992 (2011) - single individuals with a p.G22fs variant in the ACBD6 gene, presenting with mild ID, microcephaly, facial dysmorphism, spasticity. Limited additional information.

- PMID: 32108178 (2020) - two unrelated individuals with neurodevelopmental disorder (moderate ID is noted but otherwise limited clinical information) and carrying homozygous LoF variants in the ACBD6 gene (1 frameshift, 1 canonical splice). One individual also carried an allelic homozygous variant in the PRDX6 gene (unlikely but unknown disease consequence). Skin-derived patient fibroblasts showed reduced ACBD6 expression and N-myristoylation deficiency.

- PMID: 36457943 (2023) - two Thai siblings presenting with profound ID, morbid obesity, pancytopenia with severe recurrent infections, diabetes mellitus, cirrhosis, and renal failure, leading to deaths in their early 30s. Sequencing showed a novel homozygous single bp duplication (c.360dup; p.Leu121Thrfs*27) in the ACBD6 gene. Parents were heterozygous carriers.

- PMID: 37951597 (2023) - 45 previously undiagnosed individuals from 28 families with a neurodevelopmental syndrome including a complex and progressive movement disorder phenotype. Cardinal clinical features include moderate-to-severe GDD/ID (45/45), facial dysmorphism (38/40), HC <2nd percentile (21/31), weight >50th percentile (20/34), mild cerebellar ataxia (35/41), limb spasticity/hypertonia (31/41), gait abnormalities (33/35), dystonia (30/32) and variable epilepsy (13/29).

Homozygous ACBD6 variants were identified by WES in all cases, including 18 predicted LoF, 1 missense and 1 inframe insertion. Knockout studies in zebrafish recapitulate clinical features reported in patients such as movement disorders, seizures, and facial dysmorphology, while inactivation of acbd6 in X. tropicalis predominantly caused embryo death while surviving tadpoles demonstrated microcephaly, reduced movement, eye abnormalities, and brain structure differences.
Created: 17 Jan 2024, 5:12 p.m. | Last Modified: 17 Jan 2024, 5:12 p.m.

Panel Version: 5.402

Comment on publications: PMID: 32108178 (2020) paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
Created: 17 Jan 2024, 3:58 p.m. | Last Modified: 17 Jan 2024, 3:58 p.m.

Panel Version: 5.402

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO:0700092

Publications

Created: 17 Jan 2024, 3:58 p.m.
Last Modified: 17 Jan 2024, 3:58 p.m.
Panel version: 5.402

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

21937992

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

I don't know

ACBD6 variants have not been associated with a phenotype in OMIM, and as an autosomal recessive condition with Limited strength in Gen2Phen. Three variants have been reported in three unrelated cases with intellectual disability, however, in one of these carriers the ACBD6 variant was allelic with PRDX6 gene c.136del; p.(ValCysfs*23), therefore the contribution of the ACBD6 variant to intellectual disability is uncertain in this case (PMID: 21937992, 32108178).
Created: 15 Jan 2024, 3:31 p.m. | Last Modified: 15 Jan 2024, 3:31 p.m.

Panel Version: 5.400

Single variant found as only change in one ID family
Created: 31 Oct 2017, 9:57 a.m.

Phenotypes
Intellectual disability

Publications

21937992

Created: 31 Oct 2017, 9:57 a.m.

Panel version: 5.400

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:03 a.m.

Panel version: 0.306

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785

OMIM

616352

Clinvar variants

Variants in ACBD6

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_promote_green was removed from gene: ACBD6.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ACBD6. Source Expert Review Green was added to ACBD6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Apr 2024, Gel status: 2