KCNJ6:Ensemblv90

potassium voltage-gated channel subfamily J member 6
OMIM: 600877, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green KCNJ6 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.28

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Keppen-Lubinsky syndrome, MIM# 614098
  • MONDO:0013572

Green KCNJ6 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Keppen-Lubinsky syndrome, MIM# 614098
  • MONDO:0013572

Green KCNJ6 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Keppen-Lubinsky syndrome, MIM# 614098
  • MONDO:0013572

Green KCNJ6 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Keppen-Lubinsky syndrome, MIM# 614098
  • MONDO:0013572

Red KCNJ6 in Fetal anomalies


Version 1.482

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Keppen-Lubinsky syndrome, MIM# 614098
  • MONDO:0013572

Green KCNJ6 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Keppen-Lubinsky syndrome, MIM# 614098
  • MONDO:0013572