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 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome
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
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiac-urogenital syndrome, 618280, Congenital diaphragmatic hernia (CDH), Disorders of sex development (DSD)
R-numbers: R36
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nanophthalmos, High hyperopia