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Intellectual disability

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 2 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 3:46 p.m.
Comment on mode of pathogenicity: Caused by a specific missense mutation 770G>A in exon 2, replacing glycine at position 236 by arginine (G236R) in the maternal copy of KCNK9 within this locus. Same variant noted across different populations therefore no evidence for founder effect.
Created: 13 Nov 2017, 3:44 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
BIRK-BAREL SYNDROME (BIBAS)

Publications

  • 0

Olivia Niblock (Genomics England Curator)

Green List (high evidence)

There is strong evidence that variants in this gene are linked to Birk Barel Mental Retardation Dysmorphism Syndrome, with patients inheriting the disease causing allele maternally (the paternal allele is imprinted).
Created: 31 Oct 2017, 10:36 a.m.

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

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Birk-Barel mental retardation dysmorphism syndrome 612292
OMIM
605874
Clinvar variants
Variants in KCNK9
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KCNK9.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 3

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for KCNK9 was changed to Other - please provide details in the comments

29 Nov 2017, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to KCNK9. Panel: Intellectual disability Model of inheritance for gene KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene KCNK9 was set to ['28333430', ' 27151206 ', ' 24980697', ' 18678320 ']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

KCNK9 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNK9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNK9 was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNK9 was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen