WNK1:Ensemblv115

WNK lysine deficient protein kinase 1
OMIM: 605232, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green WNK1 in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492

Green WNK1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • HSAN/SFN
  • Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300
  • MONDO:0024309

Green WNK1 in Pain syndromes


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, 201300
  • HSAN 2
  • Hereditary sensory and autonomic neuropathy type IIA

Green WNK1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)

Green WNK1 in Autonomic neuropathy


Level 2: Autonomic Neuropathy
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • # 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
  • HSAN2A

Green WNK1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II MIM#201300

Green WNK1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Tags
  • treatable
  • endocrine

Green WNK1 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492