Hereditary Spastic Paraplegia - paediatric

Gene: TAF1C

Green List (high 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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

3 unrelated individuals with spasticity and hypotonia as a presenting feature.

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).

PMID: 32779182
Two individuals from two consanguineous families presenting with a range of neurodevelopmental features including spasticity and hypotonia
Sources: Literature
Created: 3 Jun 2025, 11:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038
OMIM
604905
Clinvar variants
Variants in TAF1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf1c has been classified as Green List (High Evidence).

4 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf1c has been classified as Green List (High Evidence).

3 Jun 2025, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: TAF1C was added gene: TAF1C was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature 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 complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038 Review for gene: TAF1C was set to GREEN