ZNF469:Ensemblv115

zinc finger protein 469
OMIM: 612078, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ZNF469 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Brittle cornea syndrome 1,MIM# 229200

Green ZNF469 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Brittle cornea syndrome 1, MIM# 229200

Red ZNF469 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Red
Phenotypes
  • Brittle cornea syndrome 1, MIM #229200

Green ZNF469 in Ehlers Danlos syndromes


Level 2: Cardiovascular disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • International EDS Consortium
  • Literature
  • Expert Review Green
Phenotypes
  • Brittle cornea syndrome 1, 229200

Green ZNF469 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Brittle cornea syndrome 1, MIM #229200