TMLHE

trimethyllysine hydroxylase, epsilon
OMIM: 300777, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Amber TMLHE in Intellectual disability Level 2: Developmental disorders Version 10.16 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Autism, susceptibility to, X-linked 6}, 300872 (includes Intellectual disability)

Panel

Reviews

Mode of inheritance

Details

Level 2: Developmental disorders
Version 10.16
Latest signed off version: v10.0 (6 May 2026)

Component of the following Super Panels:

Childhood onset leukodystrophy

Hypotonic infant

Paediatric disorders

review

X-LINKED: hemizygous mutation in males, biallelic mutations in females

{Autism, susceptibility to, X-linked 6}, 300872 (includes Intellectual disability)