SPEG

SPEG complex locus
OMIM: 615950
PanelMode of inheritanceDetails
4 panels
R-numbers: R135
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy, MONDO:0005021, Centronuclear myopathy 5, OMIM:615959
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 5 615959
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY 615959
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY