MKRN3

makorin ring finger protein 3
OMIM: 603856, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MKRN3 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Precocious puberty, central, 2, MIM# 615346
Tags
  • SV/CNV
  • 5'UTR

Green MKRN3 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Precocious puberty, central, 2, MIM# 615346
Tags
  • SV/CNV
  • 5'UTR

Green MKRN3 in Imprinting disorders


Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Phenotype resulting from under expression: Precocious Puberty Syndrome
  • Affected tissue: HPA axis
Tags
  • SV/CNV
  • 5'UTR