Genomics England
GMS Panels
Panels
Genes and Entities

MAMLD1

mastermind like domain containing 1
OMIM: 300120
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-LINKED HYPOSPADIAS TYPE 2 300758
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Gender Assignment Gene Panel (UKGTN), Hypospadias 2, X-linked 300758