1. Panels
  2. Aortopathy_Connective Tissue Disorders
  3. ZNF469
STRs in panel
Prev Next
Regions in panel
Prev Next

Aortopathy_Connective Tissue Disorders

Gene: ZNF469

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229)
Created: 1 Jul 2020, 6:05 a.m. | Last Modified: 1 Jul 2020, 6:05 a.m.
Panel Version: 0.109
Created: 1 Jul 2020, 6:05 a.m.
Last Modified: 1 Jul 2020, 6:05 a.m.
Panel version: 0.109

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Association with brittle cornea syndrome (BCS) is well-established. 32 patients with variants in ZNF469 and BCS are reviewed in PMID: 28306225.

BCS is classified as a form of Ehlers-Danlos syndrome (PMID: 28306229).
Sources: Literature
Created: 30 Jun 2020, 11:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brittle cornea syndrome 1 MIM# 229200

Publications

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

Created: 30 Jun 2020, 11:35 p.m.

Panel version: 0.96

Details

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

History Filter Activity

19 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1 to Brittle cornea syndrome 1,MIM# 229200

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: znf469 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: znf469 has been classified as Green List (High Evidence).

30 Jun 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: ZNF469 was added gene: ZNF469 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF469 were set to 28306229; 28306225 Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1 Review for gene: ZNF469 was set to GREEN gene: ZNF469 was marked as current diagnostic