KCNQ3

potassium voltage-gated channel subfamily Q member 3
OMIM: 602232, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red KCNQ3 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Seizures, benign neonatal, 2, MIM#121201

Green KCNQ3 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Seizures, benign neonatal, 2, MIM# 121201

Green KCNQ3 in Mendeliome


Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Complex neurodevelopmental disorder MONDO:0100038, KCNQ3-related
  • Seizures, benign neonatal, 2 MIM#121201
  • genetic developmental and epileptic encephalopathy MONDO:0100062, KCNQ3-related

Green KCNQ3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Seizures, benign neonatal, 2, MIM# 121201

Green KCNQ3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Seizures, benign neonatal, 2, MIM# 121201

Green KCNQ3 in Paroxysmal Dyskinesia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Seizures, benign neonatal, 2, MIM# 121201

Red KCNQ3 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
  • Epilepsy, benign neonatal

Red KCNQ3 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Seizures, benign neonatal, 2, MIM# 121201

Red KCNQ3 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
  • Epilepsy, benign neonatal