TMEM240

transmembrane protein 240
OMIM: 616101, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TMEM240 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TMEM240 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genetic Health Queensland
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 21, MIM# 607454
  • spinocerebellar ataxia type 21 MONDO:0011833

Green TMEM240 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 21, 607454