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Intellectual disability

Gene: ACBD6

Red List (low evidence)

ACBD6 (acyl-CoA binding domain containing 6)
EnsemblGeneIds (GRCh38): ENSG00000230124
EnsemblGeneIds (GRCh37): ENSG00000230124
OMIM: 616352, Gene2Phenotype
ACBD6 is in 2 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
Intellectual disability

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Intellectual disability
OMIM
616352
Clinvar variants
Variants in ACBD6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACBD6 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACBD6 was added to Intellectual disabilitypanel. Sources: Expert Review Red