Genomics England
GMS Panels
Panels
Genes and Entities

TRAPPC6B

trafficking protein particle complex 6B
OMIM: 610397
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MONDO:0060640, OMIM:617862.0
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
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 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862