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Genetic Epilepsy

Gene: TAF1C

Amber List (moderate evidence)

TAF1C (TATA-box binding protein associated factor, RNA polymerase I subunit C)
EnsemblGeneIds (GRCh38): ENSG00000103168
EnsemblGeneIds (GRCh37): ENSG00000103168
OMIM: 604905, Gene2Phenotype
TAF1C is in 4 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Additional reported individual with a complex neurodevelopmental disorder presenting with generalised tonic-clonic seizures.

PMID: 40371665
3yrM with progressive neurodevelopmental regression born to non consanguineous parents.
He presented with a range of phenotypes:
- generalized tonic–clonic seizures
- some abnormal brain MRI findings however preserved cognitive function
- progressive spasticity, increased muscle tone in all limbs, tremors, chronic constipation, feeding difficulties
- microcephalic, recurrent febrile episodes, splenomegaly and cerebellar atrophy

Homozygous p.Ser589Leu variant was reported (not reported on MANE select)
This variant is present in gnomAD v4.1, rare enough for AR gene (Ser563Leu - MANE select)
NFE PopMax AF = 0.006%, 76 hets globally
His unaffected parents were heterozygous for the variant (carriers).

Functional assays on the variant showed that there was no difference in mRNA stability or expression between the mutant and WT however immunofluorescence microscopy showed the mutant protein formed abnormal thread-like aggregates. No positive controls were used in the functional assay.
Created: 3 Jun 2025, 11:41 p.m. | Last Modified: 3 Jun 2025, 11:41 p.m.
Panel Version: 1.151

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), TAF1C-related
OMIM
604905
Clinvar variants
Variants in TAF1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf1c has been classified as Amber List (Moderate Evidence).

4 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf1c has been classified as Amber List (Moderate Evidence).

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

Elena Savva (Victorian Clinical Genetics Services)

gene: TAF1C was added gene: TAF1C was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF1C were set to 32779182 Phenotypes for gene: TAF1C were set to Neurodevelopmental disorder (MONDO#0700092), TAF1C-related Review for gene: TAF1C was set to RED