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Intellectual disability
Gene: TAF2

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

6 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.

Panel Version: 5.286

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 11 Oct 2023, 9:34 a.m.
Last Modified: 11 Oct 2023, 9:34 a.m.
Panel version: 5.286

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
Created: 17 Apr 2023, 12:07 p.m. | Last Modified: 17 Apr 2023, 12:07 p.m.

Panel Version: 5.60

PMID:21937992 reported an individual with intellectual disability exhibiting p.Trp649Arg variant in TAF2 gene.

Exam sequencing of one affected individual presenting with microcephaly, pyramidal signs, thin corpus callosum, and intellectual disability in PMID:24084144 identified two homozygous missense variants (p.Thr186Arg & p.Pro416His) in TAF2.

PMID:34474177 reported four individuals from two unrelated families identified with homozygous TAF2 missense variants and presenting with severe intellectual disability and global developmental delay, postnatal microcephaly, feet deformities and thin corpus callosum.

This gene has also been associated with relevant phenotypes in both OMIM (MIM #615599) and Gene2Phenotype (with 'limited' rating).
Created: 17 Apr 2023, 12:01 p.m. | Last Modified: 17 Apr 2023, 12:01 p.m.

Panel Version: 5.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 40, OMIM:615599

Publications

Created: 17 Apr 2023, 12:01 p.m.
Last Modified: 17 Apr 2023, 12:01 p.m.
Panel version: 5.57

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated families reported now.
Created: 9 Oct 2021, 8:03 a.m. | Last Modified: 9 Oct 2021, 8:03 a.m.

Panel Version: 3.1332

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 40; OMIM # 615599

Publications

Created: 9 Oct 2021, 8:03 a.m.
Last Modified: 9 Oct 2021, 8:03 a.m.
Panel version: 3.1332

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

21937992

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

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

Created: 31 Oct 2017, 9:24 a.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.4

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:05 a.m.

Panel version: 0.306

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Intellectual developmental disorder, autosomal recessive 40, OMIM:615599

OMIM

604912

Clinvar variants

Variants in TAF2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

1 May 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, OMIM:615599 to Intellectual developmental disorder, autosomal recessive 40, OMIM:615599

11 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, 615599 to Mental retardation, autosomal recessive 40, OMIM:615599

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: TAF2.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to TAF2. Source Expert Review Green was added to TAF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Apr 2023, Gel status: 2