Genomics England
GMS Panels
Panels
Genes and Entities

TBC1D2B

TBC1 domain family member 2B
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TBC1D2B-related neurodevelopmental disorder
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323, neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323, neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148