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Intellectual disability

Gene: TAF13

Amber List (moderate evidence)

TAF13 (TATA-box binding protein associated factor 13)
EnsemblGeneIds (GRCh38): ENSG00000197780
EnsemblGeneIds (GRCh37): ENSG00000197780
OMIM: 600774, Gene2Phenotype
TAF13 is in 4 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Reported in two independent consanguineous families, each with two children affected by mild intellectual disability and microcephaly.
Created: 25 Sep 2017, 9:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 60 617432

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 60 617432
Tags
watchlist
OMIM
600774
Clinvar variants
Variants in TAF13
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to TAF13.

12 Mar 2018, Gel status: 2

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.

25 Sep 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Sep 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TAF13 was added to Intellectual disabilitypanel. Sources: Literature,Other

25 Sep 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TAF13 was created by ellenmcdonagh