Genomics England
GMS Panels
Panels
Genes and Entities

SPEG

SPEG complex locus
OMIM: 615950
PanelMode of inheritanceDetails
4 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 5, OMIM:615959
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY 615959
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 5.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy, MONDO:0005021, Centronuclear myopathy 5, OMIM:615959