TAF1C

TATA-box binding protein associated factor, RNA polymerase I subunit C
OMIM: 604905, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TAF1C in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), TAF1C-related

Green TAF1C in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), TAF1C-related

Green TAF1C in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038