BIN1

bridging integrator 1
OMIM: 601248
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear Myopathy, Recessive, Myopathy, centronuclear, autosomal recessive, 255200
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CENTRONUCLEAR MYOPATHY 2 255200
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CENTRONUCLEAR MYOPATHY 2