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Differences in sex development

Gene: TAF4B

Red List (low evidence)
TAF4B (TATA-box binding protein associated factor 4b)
EnsemblGeneIds (GRCh38): ENSG00000141384
EnsemblGeneIds (GRCh37): ENSG00000141384
OMIM: 601689, Gene2Phenotype
TAF4B is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One homozygous variant reported in four infertile brothers in a highly consanguineous family
Created: 2 Nov 2016, 1:16 p.m.
Created: 21 Sep 2016, 2:40 p.m.

Panel version: 0.213

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Spermatogenic failure 13 615841
OMIM
601689
Clinvar variants
Variants in TAF4B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

21 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene TAF4B were set to Spermatogenic failure 13 615841

23 May 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene TAF4B were set to ?Spermatogenic failure 13, 615841

20 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TAF4B was added to Disorders of sex developmentpanel. Sources: Other

20 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TAF4B was created by sleigh