Genomics England
GMS Panels
Panels
Genes and Entities

PLXNB2

plexin B2
OMIM: 604293
PanelMode of inheritanceDetails
4 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 DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability
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
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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
amelogenesis imperfecta, MONDO:0019507, sensorineural hearing loss disorder, MONDO:0020678, intellectual disability, MONDO:0001071