Genomics England
GMS Panels
Panels
Genes and Entities

PLXNB2

plexin B2
OMIM: 604293
PanelMode of inheritanceDetails
3 panels
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
amelogenesis imperfecta, MONDO:0019507, sensorineural hearing loss disorder, MONDO:0020678, intellectual disability, MONDO:0001071
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
amelogenesis imperfecta, MONDO:0019507, sensorineural hearing loss disorder, MONDO:0020678, intellectual disability, MONDO:0001071
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
amelogenesis imperfecta, MONDO:0019507, sensorineural hearing loss disorder, MONDO:0020678, intellectual disability, MONDO:0001071