MAMLD1:Ensemblv90

mastermind like domain containing 1
OMIM: 300120, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MAMLD1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 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 1.3802

1 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 1.482

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

Green MAMLD1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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

Green MAMLD1 in Fetal anomalies


Version 2.0

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