Genomics England
GMS Panels
Panels
Genes and Entities

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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2S 616155, Neuronopathy, distal hereditary motor, type VI, 604320
Green
in Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuronopathy, distal hereditary motor, type VI, OMIM:604320