Differences in sex development
Gene: MAMLD1

MAMLD1 (mastermind like domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000013619
EnsemblGeneIds (GRCh37): ENSG00000013619
OMIM: 300120, Gene2Phenotype
MAMLD1 is in 3 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 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.

Created: 13 Sep 2016, 9:07 a.m.

Panel version: 0.187

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

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

Created: 4 Feb 2016, 4:13 p.m.

Panel version: 0.47

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Gender Assignment Gene Panel (UKGTN)
Hypospadias 2, X-linked 300758

OMIM

300120

Clinvar variants

Variants in MAMLD1

Penetrance

Complete

Publications

Panels with this gene