KCNK9

potassium two pore domain channel subfamily K member 9
OMIM: 605874, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red KCNK9 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292

Green KCNK9 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Birk-Barel syndrome, MIM# 612292
  • MONDO:0012856

Green KCNK9 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Birk-Barel syndrome, MIM# 612292
  • MONDO:0012856

Green KCNK9 in Imprinting disorders


Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism
  • Affected tissue: brain
  • Birk-Barel syndrome, MIM# 612292
  • MONDO:0012856