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DDG2P

Gene: ACBD6

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ACBD6-related intellectual developmental disorder are strong, biallelic_autosomal and loss of function (PMIDs: 21937992, 26748517, 36457943, 37951597). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00748.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:21937992).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ACBD6-related intellectual developmental disorder; MONDO:0968976; AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; OMIM:620785.0

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
616352
Clinvar variants
Variants in ACBD6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ACBD6. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ACBD6 was added gene: ACBD6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 21937992 Phenotypes for gene: ACBD6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION