Genomics England
GMS Panels
Panels
Genes and Entities

TRAPPC6B

trafficking protein particle complex 6B
OMIM: 610397
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 6.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862