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DDG2P

Gene: TAF4

Red List (low evidence)
TAF4 (TATA-box binding protein associated factor 4)
EnsemblGeneIds (GRCh38): ENSG00000130699
EnsemblGeneIds (GRCh37): ENSG00000130699
OMIM: 601796, Gene2Phenotype
TAF4 is in 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease TAF4-related neurodevelopmental disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID:35904126).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
TAF4-related neurodevelopmental disorder

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Eleanor Williams (Genomics England Curator)

This panel reflects the DD panel in the Gene2Phenotype resource. This gene is not currently listed there.
This gene will be copied to the PanelApp Intellectual disability panel (285) and reviewed for inclusion there.
Created: 10 Aug 2022, 2:29 p.m. | Last Modified: 10 Aug 2022, 2:29 p.m.
Panel Version: 2.78
Created: 10 Aug 2022, 2:29 p.m.
Last Modified: 10 Aug 2022, 2:29 p.m.
Panel version: 2.78

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

From the literature:
"A heterozygous de novo variant (frameshift) was reported in TAF4 by Kosmicki et al., in a patient with autism.36 The gene has no phenotypic association in OMIM (accessed 12 October 2020). Within this study, we identified two additional de novo LoF variants (splicing and nonsense) in two unrelated patients with dysmorphic features and NDD. TAF4 is highly intolerant to LoF as documented in gnomAD (pLi = 1). Expression of TAF4 varies during development and in the processes of cell differentiation; TAF4 is detected in various regions of the human brain, and it is believed to control the differentiation of human neural progenitor cells having a role in the regulation of neural development and brain function.37 The current data suggests that TAF4 haploinsufficiency leads to NDD in humans."
Sources: Literature
Created: 30 Oct 2021, 11:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay

Publications

Created: 30 Oct 2021, 11:45 a.m.

Panel version: 2.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • TAF4-related neurodevelopmental disorder
  • Developmental delay
OMIM
601796
Clinvar variants
Variants in TAF4
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

27 Feb 2024, Gel status: 1

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag curated_removed was removed from gene: TAF4.

4 Oct 2023, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source DD-Gene2Phenotype was added to TAF4. Source Expert Review Red was added to TAF4. Mode of inheritance for gene TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes TAF4-related neurodevelopmental disorder for gene: TAF4 Publications for gene: TAF4 were updated from 33875846 to 35904126; 33875846 Rating Changed from No List (delete) to Red List (low evidence)

10 Aug 2022, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag curated_removed tag was added to gene: TAF4.

10 Aug 2022, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: taf4 has been removed from the panel.

30 Oct 2021, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: TAF4 was added gene: TAF4 was added to DDG2P. Sources: Literature Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAF4 were set to 33875846 Phenotypes for gene: TAF4 were set to Developmental delay Penetrance for gene: TAF4 were set to unknown Review for gene: TAF4 was set to GREEN