Genomics England
GMS Panels
Panels
Genes and Entities

MYRF

myelin regulatory factor
OMIM: 608329
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiac-urogenital syndrome, OMIM:618280, gonadal hypoplasia, Mullerian duct hypoplasia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiac-urogenital syndrome, 618280, Congenital diaphragmatic hernia (CDH), Disorders of sex development (DSD)
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nanophthalmos, High hyperopia