Genomics England
GMS Panels
Panels
Genes and Entities

BIN1

bridging integrator 1
OMIM: 601248
PanelMode of inheritanceDetails
3 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 2, OMIM:255200
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CENTRONUCLEAR MYOPATHY 2 255200
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CENTRONUCLEAR MYOPATHY 2