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 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • X-LINKED HYPOSPADIAS TYPE 2
Green MAMLD1 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

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