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Intellectual disability syndromic and non-syndromic

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)

Additional 47 individuals reported with 15 variants, including another hotspot at p.Arg131.
Created: 14 Jul 2022, 12:10 a.m. | Last Modified: 14 Jul 2022, 12:10 a.m.
Panel Version: 0.4834
Six unrelated families reported, including a multiplex family with evidence for imprinting.

p.Gly236Arg is recurrent.
Created: 2 May 2021, 12:24 a.m. | Last Modified: 2 May 2021, 12:24 a.m.
Panel Version: 0.3722

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

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Birk-Barel syndrome, MIM# 612292
  • MONDO:0012856
OMIM
605874
Clinvar variants
Variants in KCNK9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNK9 were set to 28333430; 27151206; 24980697; 18678320

2 May 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).

2 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, MIM# 612292; MONDO:0012856

2 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNK9 were set to

2 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNK9 was added gene: KCNK9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNK9 was set to Unknown