TTC1

tetratricopeptide repeat domain 1
OMIM: 601963, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red TTC1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.87

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, MONDO:0020135, TTC1-related

Red TTC1 in Mendeliome


Version 1.3050

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, MONDO:0020135, TTC1-related

Red TTC1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.288

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, MONDO:0020135, TTC1-related