Disorders of sex development
Gene: MAP3K1
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.
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 613762Created: 2 Nov 2016, 1:13 p.m.
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
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for MAP3K1 were set to 46XY sex reversal 6 613762
This proposed gene was validated and added to this panel
MAP3K1 was added to Disorders of sex developmentpanel. Sources: Other,Radboud University Medical Center, Nijmegen
MAP3K1 was added to Disorders of sex developmentpanel. Sources: Expert Review
MAP3K1 was created by John Achermann