Corneal abnormalities
Gene: ZNF469

ZNF469 (zinc finger protein 469)
EnsemblGeneIds (GRCh38): ENSG00000225614
EnsemblGeneIds (GRCh37): ENSG00000225614
OMIM: 612078, Gene2Phenotype
ZNF469 is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green and more than 3 families reported, for different variants.
Created: 15 Feb 2017, 5:05 p.m.

Created: 15 Feb 2017, 5:05 p.m.

Panel version: 0.37

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brittle cornea syndrome

Publications

18452888

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Brittle cornea syndrome, 229200

OMIM

612078

Clinvar variants

Variants in ZNF469

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

15 Feb 2017, Gel status: 4