Disorders of sex development
Gene: MAMLD1
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 on publications: 26580071 questions role of MAMLD1 in disordered sex development, although report association of terminating variant with phenotype.Created: 13 Sep 2016, 9:10 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and "probable" association in G2P / DD. At least four terminating variants reported.Created: 13 Sep 2016, 9:09 a.m.
Associated with hypospadias, X-linked. Still unclear how prevalent. There is variability in ExAC but very few severe loss of function hemizygous changes in population so probably genuine, but reporting requires some consideration.Created: 4 Feb 2016, 4:13 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for MAMLD1 were set to 17086185; 26580071; 25660412
Phenotypes for gene MAMLD1 were set to Gender Assignment Gene Panel (UKGTN); Hypospadias 2, X-linked 300758
MAMLD1 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
MAMLD1 was added to Disorders of sex developmentpanel. Sources: UKGTN
MAMLD1 was created by ellenmcdonagh