KCNJ18

potassium inwardly rectifying channel subfamily J member 18
OMIM: 613236, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red KCNJ18 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239

Red KCNJ18 in Skeletal Muscle Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Expert Review
Phenotypes
  • Hypokalemic periodic paralysis
  • {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239

Red KCNJ18 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hypokalaemic periodic paralysis

Red KCNJ18 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypokalaemic periodic paralysis