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  3. ZNF462
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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

1 family (4 affected members), Weiss et al. (2017) identified a heterozygous nonsense ZNF462 mutation.
3 additional unrelated patients with a similar phenotype with heterozygous ZNF462 mutations.
14 unrelated patients with WSKA, Kruszka et al. (2019) identified heterozygous loss-of-function ZNF462 mutations.

Multiple congenital anomalies syndrome.
Created: 10 Dec 2019, 11:38 p.m. | Last Modified: 21 Jan 2022, 1:46 a.m.
Panel Version: 0.2665

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Weiss-Kruszka syndrome; OMIM# 618619

Publications

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

Created: 10 Dec 2019, 11:38 p.m.
Last Modified: 21 Jan 2022, 1:46 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1255

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Dysgenesis of corpus callosum and structural heart defects reported as part of syndrome.
Suitable for fetal anomalies panel.
Created: 13 Jan 2022, 4:55 a.m. | Last Modified: 13 Jan 2022, 4:56 a.m.
Panel Version: 0.2000
Sources: Expert list
Created: 4 Dec 2019, 1:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Weiss-Kruszka syndrome; OMIM# 618619

Publications

Created: 4 Dec 2019, 1:14 p.m.
Last Modified: 13 Jan 2022, 4:56 a.m.
Panel version: 0.1999

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Weiss-Kruszka syndrome
  • OMIM#618619
OMIM
617371
Clinvar variants
Variants in ZNF462
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

19 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: ZNF462 were changed from Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay to Weiss-Kruszka syndrome; OMIM#618619

19 Jan 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: ZNF462 were set to

19 Jan 2022, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: ZNF462 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZNF462 was added gene: ZNF462 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay