MAP3K1

mitogen-activated protein kinase kinase kinase 1
OMIM: 600982, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green MAP3K1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 46XY sex reversal 6 (MIM#613762)

Green MAP3K1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 46XY sex reversal 6 (MIM#613762)

Red MAP3K1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Hearing loss disorder, MONDO:0005365, MAP3K1-related

Green MAP3K1 in Fetal anomalies


Version 1.482

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 46XY sex reversal 6 (MIM#613762)