ZNF469

zinc finger protein 469
OMIM: 612078, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ZNF469 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

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

Green ZNF469 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.10

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

Green ZNF469 in Mendeliome


Version 1.1891

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

Red ZNF469 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

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

Green ZNF469 in Ehlers Danlos syndromes


Level 2: Cardiovascular disorders
Version 1.3

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

Green ZNF469 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Brittle cornea syndrome

Red ZNF469 in Prepair 1000+


Level 2: Screening
Version 1.9

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

Red ZNF469 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Brittle cornea syndrome MIM#229200