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Intellectual disability

Gene: KCNJ6

Green List (high evidence)

KCNJ6 (potassium voltage-gated channel subfamily J member 6)
EnsemblGeneIds (GRCh38): ENSG00000157542
EnsemblGeneIds (GRCh37): ENSG00000157542
OMIM: 600877, Gene2Phenotype
KCNJ6 is in 4 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 9:16 p.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 3:28 p.m.

Caroline Wright (Sanger)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
KEPPEN-LUBINSKY SYNDROME

Publications

Olivia Niblock (Genomics England Curator)

Green List (high evidence)

There is sufficient evidence to suggest a link between variants in this gene and Keppen-Lubinsky syndrome, a symptom of which is severe mental retardation (614098). Three patients have been identified with 2 distinct variants in this gene (one small 3bp deletion in 2 unrelated patients and one denovo point variant). Also appears in the Radboud list as being linked to Intellectual Disability
Created: 31 Oct 2017, 10:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Pending further data - 2 mutations in 3 unrelated individuals to date
Created: 7 Feb 2016, 9:30 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Keppen-Lubinsky syndrome 614098
OMIM
600877
Clinvar variants
Variants in KCNJ6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: kcnj6 has been classified as Green List (High Evidence).

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KCNJ6.

12 Mar 2018, Gel status: 4

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: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to KCNJ6. Panel: Intellectual disability Model of inheritance for gene KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

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

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ6 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KCNJ6 was created by ellenmcdonagh