Genomics England
GMS Panels
Panels
Genes and Entities

MYPN

myopalladin
OMIM: 608517
PanelMode of inheritanceDetails
3 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 11, autosomal recessive, OMIM:617336
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 11, autosomal recessive, 617336
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 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomypathy, familial hypertrophic, 22,, Cardiomyopathy, dilated, 1KK