DDG2P
Gene: TAF1C

TAF1C (TATA-box binding protein associated factor, RNA polymerase I subunit C)
EnsemblGeneIds (GRCh38): ENSG00000103168
EnsemblGeneIds (GRCh37): ENSG00000103168
OMIM: 604905, Gene2Phenotype
TAF1C is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TAF1C-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMIDs: 32779182, 40371665). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03747.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TAF1C-related neurodevelopmental disorder

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

TAF1C-related neurodevelopmental disorder

OMIM

604905

Clinvar variants

Variants in TAF1C

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TAF1C was added gene: TAF1C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF1C were set to 40371665; 32779182 Phenotypes for gene: TAF1C were set to TAF1C-related neurodevelopmental disorder

DDG2P Gene: TAF1C