Genetic Epilepsy
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 3 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

Knuutinen et al (2020 - PMID: 32779182) report on 2 individuals from 2 consanguineous families, homozygous for TAF1C missense variants. Both presented with an early onset neurological phenotype with severe global DD, ID (2/2 - moderate and profound), spasticity (2/2), ophthalmic findings (strabismus 2/2, nystagmus 1/2). Epilepsy, abnormal brain MRI (cerebral and cerebellar atrophy and white matter hyperintensities) as well and additional findings were reported in one (always the same individual).

NO hom PTCs in gnomAD v4
Sources: Literature
Created: 8 Feb 2024, 10:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), TAF1C-related

Publications

32779182

Created: 8 Feb 2024, 10:55 p.m.

Panel version: 0.2225

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Neurodevelopmental disorder (MONDO#0700092), TAF1C-related

OMIM

604905

Clinvar variants

Variants in TAF1C

Penetrance

None

Publications

32779182

Panels with this gene

History Filter Activity

8 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: taf1c has been classified as Red List (Low Evidence).

8 Feb 2024, Gel status: 1

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