TGM6:Ensemblv115

transglutaminase 6
OMIM: 613900, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red TGM6 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 35, MIM#613908

Red TGM6 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Expert Review Red
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 35, 613908
  • Spinocerebellar ataxia 35
Tags
  • refuted