MAMLD1

mastermind like domain containing 1
OMIM: 300120, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MAMLD1 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.66
Latest signed off version: v2.2 (3 Mar 2020)

review 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

Amber MAMLD1 in Fetal anomalies


Version 1.905
Latest signed off version: v1.92 (21 Aug 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • X-LINKED HYPOSPADIAS TYPE 2

Amber MAMLD1 in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • X-LINKED HYPOSPADIAS TYPE 2 300758