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Gene: ZNF469

Red List (low evidence)

ZNF469 (zinc finger protein 469)
EnsemblGeneIds (GRCh38): ENSG00000225614
EnsemblGeneIds (GRCh37): ENSG00000225614
OMIM: 612078, Gene2Phenotype
ZNF469 is in 7 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. Severe condition with some variability. Characterised by blue sclerae, keratoconus or keratoglobus. Minor trauma (both direct and indirect) can cause ocular rupture, resulting in blindness. This often happens in early childhood. Other features include hyperelasticity of the skin, and hypermobility of the joints
Created: 7 Mar 2025, 5:04 a.m. | Last Modified: 7 Mar 2025, 5:04 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brittle cornea syndrome 1, 229200, (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Brittle cornea syndrome 1, MIM #229200
OMIM
612078
Clinvar variants
Variants in ZNF469
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZNF469 was added gene: ZNF469 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1, MIM #229200