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  2. Mackenzie's Mission_Reproductive Carrier Screening
  3. ZNF469
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Mackenzie's Mission_Reproductive Carrier Screening

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

Sarah Righetti (University of New South Wales)

Red List (low evidence)

Not suitable for MM screening. Extremely rare condition, borderline severity, variants often require laboratory curation but are rarely reportable.
Created: 28 Apr 2021, 5:24 a.m. | Last Modified: 28 Apr 2021, 5:24 a.m.
Panel Version: 0.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brittle cornea syndrome 1, MIM #229200

Created: 28 Apr 2021, 5:24 a.m.
Last Modified: 28 Apr 2021, 5:24 a.m.
Panel version: 0.70

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

7 May 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: znf469 has been classified as Red List (Low Evidence).

7 May 2021, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1, 229200 (3) to Brittle cornea syndrome 1, MIM #229200

7 May 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: znf469 has been classified as Red List (Low Evidence).

19 Apr 2020, Gel status: 3

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 Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1, 229200 (3)