Differences in sex development
Gene: MAP3K1

MAP3K1 (mitogen-activated protein kinase kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000095015
EnsemblGeneIds (GRCh37): ENSG00000095015
OMIM: 600982, Gene2Phenotype
MAP3K1 is in 4 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.

Created: 29 Apr 2019, 9:46 a.m.

Panel version: 1.32

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 4 variants reported.
Created: 2 Nov 2016, 1:14 p.m.

Comment on list classification: Confirmed DD gene for 46XY sex reversal 6 613762
Created: 2 Nov 2016, 1:13 p.m.

Created: 2 Nov 2016, 1:13 p.m.

Panel version: 0.218

John Achermann (UCL Institute of Child Health)

Red List (low evidence)

Familial associations with testicular dysgenesis reported, but large gene with much variability so care needed in interpretation.
Created: 4 Feb 2016, 2:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 4 Feb 2016, 2:44 p.m.

Panel version: 0.45

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Other
Radboud University Medical Center, Nijmegen

Phenotypes

46XY sex reversal 6 613762

OMIM

600982

Clinvar variants

Variants in MAP3K1

Penetrance

Complete

Panels with this gene