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Intellectual disability syndromic and non-syndromic

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.
Created: 10 Dec 2019, 11:38 p.m. | Last Modified: 10 Dec 2019, 11:38 p.m.
Panel Version: 0.1255

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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

18 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF462 were changed from Weiss-Kruszka syndrome; OMIM# 618619 to Weiss-Kruszka syndrome, OMIM# 618619

18 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF462 were set to PubMed: 31361404; 28513610

10 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

4 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: ZNF462 was added gene: ZNF462 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF462 were set to PubMed: 31361404; 28513610 Phenotypes for gene: ZNF462 were set to Weiss-Kruszka syndrome; OMIM# 618619 Review for gene: ZNF462 was set to GREEN