TGM6

transglutaminase 6
OMIM: 613900, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red TGM6 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

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

Red TGM6 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 35, MIM# 613908
Tags
  • refuted

Red TGM6 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.601

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 35, MIM# 613908
Tags
  • refuted

Red TGM6 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.162

Component of the following Super Panels:

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