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  3. KCNK9
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Imprinting disorders

Gene: KCNK9

Green List (high evidence)
KCNK9 (potassium two pore domain channel subfamily K member 9)
EnsemblGeneIds (GRCh38): ENSG00000169427
EnsemblGeneIds (GRCh37): ENSG00000169427
OMIM: 605874, Gene2Phenotype
KCNK9 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated families reported, including a multiplex family with evidence for imprinting. p.Gly236Arg is recurrent.
Created: 22 Sep 2021, 6:42 a.m. | Last Modified: 22 Sep 2021, 6:42 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Birk-Barel syndrome, MIM# 612292; MONDO:0012856

Publications

Created: 22 Sep 2021, 6:42 a.m.
Last Modified: 22 Sep 2021, 6:42 a.m.
Panel version: 0.4

Details

Mode of Inheritance
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
OMIM
605874
Clinvar variants
Variants in KCNK9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnk9 has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNK9 were changed from Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism; Affected tissue: brain; Birk-Barel syndrome to Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism; Affected tissue: brain; Birk-Barel syndrome, MIM# 612292; MONDO:0012856

22 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNK9 were set to http://igc.otago.ac.nz/home.html; PMID: 24667089; 18678320; 30794780

6 Aug 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNK9 was added gene: KCNK9 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: KCNK9 were set to http://igc.otago.ac.nz/home.html; PMID: 24667089; 18678320; 30794780 Phenotypes for gene: KCNK9 were set to Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism; Affected tissue: brain; Birk-Barel syndrome