FOXL2_BPES_GCN

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FOXL2_BPES_GCN STR in Blepharophimosis


Level 2: Ophthalmological disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100
  • Premature ovarian failure 3 MIM#608996

Green FOXL2_BPES_GCN STR in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.347

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100
  • Premature ovarian failure 3 MIM#608996

Green FOXL2_BPES_GCN STR in Repeat Disorders


Version 0.256

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100
  • Premature ovarian failure 3 MIM#608996
Tags
  • paediatric-onset