IGHMBP2

immunoglobulin mu binding protein 2
OMIM: 600502
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
R-numbers: R78
Signed-off version 1.36
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2S 616155, Neuronopathy, distal hereditary motor, type VI, 604320
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with respiratory distress, 604320