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Intellectual disability

Gene: ACSF3

Red List (low evidence)

ACSF3 (acyl-CoA synthetase family member 3)
EnsemblGeneIds (GRCh38): ENSG00000176715
EnsemblGeneIds (GRCh37): ENSG00000176715
OMIM: 614245, Gene2Phenotype
ACSF3 is in 6 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Grey no evidence for ID in phenotype
Created: 31 Oct 2017, 9:57 a.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Combined malonic and methylmalonic aciduria, 614265
OMIM
614245
Clinvar variants
Variants in ACSF3
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.

29 Nov 2017, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ACSF3 was set to Unknown Publications for gene ACSF3 was set to ['21841779', ' 21785126']

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACSF3 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACSF3 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen