PCGF2

polycomb group ring finger 2
OMIM: 600346, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PCGF2 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Turnpenny-Fry syndrome, MIM#618371

Green PCGF2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Turnpenny-Fry syndrome, MIM# 618371

Amber PCGF2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Turnpenny-Fry syndrome, MIM# 618371

Green PCGF2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Turnpenny-Fry syndrome, MIM# 618371

Green PCGF2 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Turnpenny-Fry syndrome, MIM# 618371