PGRMC1

progesterone receptor membrane component 1
OMIM: 300435, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PGRMC1 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Isolated paediatric cataract
Tags
  • SV/CNV

Amber PGRMC1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Premature ovarian failure
  • Isolated paediatric cataract
Tags
  • SV/CNV

Red PGRMC1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.328

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health QLD
Phenotypes
  • Premature ovarian failure