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Intellectual disability

Gene: TAF2

Red List (low evidence)

TAF2 (TATA-box binding protein associated factor 2)
EnsemblGeneIds (GRCh38): ENSG00000064313
EnsemblGeneIds (GRCh37): ENSG00000064313
OMIM: 604912, Gene2Phenotype
TAF2 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

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Variants from PMID:24084144 are listed in OMIM as 'variants of unknown significance'. Listed as a candidate ID gene in PMID:26350204 but insufficient cases to rate as diagnostic grade.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
Mental retardation, autosomal recessive 40, 615599

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mental retardation, autosomal recessive 40, 615599
OMIM
604912
Clinvar variants
Variants in TAF2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to TAF2.

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 publications

Ellen McDonagh (Genomics England Curator)

Publications for gene TAF2 was set to ['21937992', ' 24084144', ' 26350204']

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

Added New Source

Ellen McDonagh (Genomics England Curator)

TAF2 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TAF2 was created by ellenmcdonagh