TMLHE

trimethyllysine hydroxylase, epsilon
OMIM: 300777, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red TMLHE in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • {Autism, susceptibility to, X-linked 6}, MIM#300872

Red TMLHE in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Autism, susceptibility to, X-linked 6}, MIM#300872

Red TMLHE in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • {Autism, susceptibility to, X-linked 6} 300872