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  2. Craniosynostosis
  3. ZNF462
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Craniosynostosis

Gene: ZNF462

Green List (high evidence)
ZNF462 (zinc finger protein 462)
EnsemblGeneIds (GRCh38): ENSG00000148143
EnsemblGeneIds (GRCh37): ENSG00000148143
OMIM: 617371, Gene2Phenotype
ZNF462 is in 5 panels

1 review

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Craniosynostosis observed in 38% of affected individuals
Sources: Literature
Created: 17 Jun 2020, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
WEISS-KRUSZKA SYNDROME

Publications

Created: 17 Jun 2020, 1:38 p.m.

Panel version: 0.73

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Weiss-Kruszka syndrome, MIM#618619
OMIM
617371
Clinvar variants
Variants in ZNF462
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF462 were changed from WEISS-KRUSZKA SYNDROME to Weiss-Kruszka syndrome, MIM#618619

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: znf462 has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: znf462 has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: ZNF462 was added gene: ZNF462 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF462 were set to 28513610 Phenotypes for gene: ZNF462 were set to WEISS-KRUSZKA SYNDROME Penetrance for gene: ZNF462 were set to Complete Review for gene: ZNF462 was set to GREEN