PANX1:Ensemblv90

pannexin 1
OMIM: 608420, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PANX1 in Mendeliome


Version 1.3802

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oocyte maturation defect 7, MIM# 618550

Red PANX1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.391

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health QLD
Phenotypes
  • Oocyte maturation defect 7, MIM# 618550

Red PANX1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genetic Health QLD
  • Expert Review Red
Phenotypes
  • Oocyte maturation defect 7, MIM# 618550