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Intellectual disability syndromic and non-syndromic

Gene: WNK3

Green List (high evidence)

WNK3 (WNK lysine deficient protein kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000196632
EnsemblGeneIds (GRCh37): ENSG00000196632
OMIM: 300358, Gene2Phenotype
WNK3 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Prieto syndrome, MIM# 309610

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

6 maternally inherited hemizygous variants, 3 missense, 2 canonical splice, and a nonsense. Seen in 14 individuals from 6 families, all 14 are male who inherited hemizygous variants from their unaffected heterozygous mothers. The variants cosegregated with disease in 3 families with multiple affected individuals. All 14 patients have ID, 11 have speech delay, 10 have facial abnormalities, 5 have seizures, 6 with microcephaly and 7 with anomalies in brain imaging.
Sources: Literature
Created: 14 Jul 2022, 1:30 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Neurodevelopmental disorder, WNK3-related (MONDO#0700092)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Prieto syndrome, MIM# 309610
OMIM
300358
Clinvar variants
Variants in WNK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WNK3 were changed from Neurodevelopmental disorder, WNK3-related (MONDO#0700092) to Prieto syndrome, MIM# 309610

14 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnk3 has been classified as Green List (High Evidence).

14 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnk3 has been classified as Green List (High Evidence).

14 Jul 2022, Gel status: 0

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

Lucy Spencer (Victorian Clinical Genetics Services)

gene: WNK3 was added gene: WNK3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: WNK3 were set to 35678782 Phenotypes for gene: WNK3 were set to Neurodevelopmental disorder, WNK3-related (MONDO#0700092) Review for gene: WNK3 was set to GREEN