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Fetal anomalies

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families.
Created: 29 Feb 2020, 7:15 a.m. | Last Modified: 29 Feb 2020, 7:15 a.m.
Panel Version: 0.2273

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 60, MIM# 617432

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive 60, MIM# 617432
  • Microcephaly
OMIM
600774
Clinvar variants
Variants in TAF13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf13 has been classified as Amber List (Moderate Evidence).

17 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAF13 were changed from Autosomal-Recessive Intellectual Disability and Microcephaly to Mental retardation, autosomal recessive 60, MIM# 617432; Microcephaly

17 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAF13 were set to

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TAF13 was added gene: TAF13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly