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BabyScreen+ newborn screening

Gene: WNK1

Green List (high evidence)

WNK1 (WNK lysine deficient protein kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000060237
EnsemblGeneIds (GRCh37): ENSG00000060237
OMIM: 605232, Gene2Phenotype
WNK1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Results in hyperkalaemia and later onset of hypertension.

Treatment: thiazide diuretics.

Confirmatory testing: electrolytes, aldosterone
Created: 4 Oct 2023, 3:29 a.m. | Last Modified: 4 Oct 2023, 3:29 a.m.
Panel Version: 1.104

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pseudohypoaldosteronism 2C (PHA2C), MIM#614492

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Tags
treatable endocrine
OMIM
605232
Clinvar variants
Variants in WNK1
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnk1 has been classified as Green List (High Evidence).

4 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type I to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492

4 Oct 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: WNK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnk1 has been classified as Green List (High Evidence).

4 Oct 2023, Gel status: 1

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: WNK1. Tag endocrine tag was added to gene: WNK1.

18 Sep 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNK1 was added gene: WNK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type I