MAMLD1

mastermind like domain containing 1
OMIM: 300120, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MAMLD1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypospadias 2 (MIM#300758)

Green MAMLD1 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypospadias 2 (MIM#300758)

Green MAMLD1 in Fetal anomalies


Version 1.314

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypospadias 2 (MIM#300758)