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Intellectual disability syndromic and non-syndromic

Gene: TAF2

Green List (high evidence)

TAF2 (TATA-box binding protein associated factor 2)
EnsemblGeneIds (GRCh38): ENSG00000064313
EnsemblGeneIds (GRCh37): ENSG00000064313
OMIM: 604912, Gene2Phenotype
TAF2 is in 3 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Report of 4 individuals from 2 unrelated families, with severe intellectual disability, global developmental delay, postnatal microcephaly, feet deformities and thin corpus callosum. They had homozygous TAF2 missense variants detected by Exome Sequencing.
Created: 17 Sep 2021, 4 a.m. | Last Modified: 17 Sep 2021, 4 a.m.
Panel Version: 0.4117

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 40; OMIM # 615599

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported, also identified as a candidate gene in PMID 26350204.
Created: 29 Feb 2020, 7:23 a.m. | Last Modified: 29 Feb 2020, 7:23 a.m.
Panel Version: 0.2277

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 40, MIM# 615599

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive 40, MIM# 615599
OMIM
604912
Clinvar variants
Variants in TAF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAF2 were set to 21937992; 22633631; 26350204

17 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: taf2 has been classified as Green List (High Evidence).

29 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf2 has been classified as Amber List (Moderate Evidence).

29 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Feb 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAF2 were set to

29 Feb 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

29 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf2 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TAF2 was added gene: TAF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF2 was set to Unknown