Genomics England
GMS Panels
Panels
Genes and Entities

TMTC3

transmembrane and tetratricopeptide repeat containing 3
OMIM: 617218
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cobblestone Lissencephaly
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 8, 617255, includes intellectual disability