Genomics England
GMS Panels
Panels
Genes and Entities

TBC1D7

TBC1 domain family member 7
OMIM: 612655
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000