Genomics England
GMS Panels
Panels
Genes and Entities

MYMK

myomaker, myoblast fusion factor
OMIM: 615345
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome, OMIM:254940, Carey-Fineman-Ziter syndrome, MONDO:0009700
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome, OMIM:254940, Carey-Fineman-Ziter syndrome, MONDO:0009700
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome, OMIM:254940
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome, OMIM:254940, Carey-Fineman-Ziter syndrome, MONDO:0009700