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Intellectual disability

Gene: KCNH5

Red List (low evidence)

KCNH5 (potassium voltage-gated channel subfamily H member 5)
EnsemblGeneIds (GRCh38): ENSG00000140015
EnsemblGeneIds (GRCh37): ENSG00000140015
OMIM: 605716, Gene2Phenotype
KCNH5 is in 3 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
INFANTILE EPILEPTIC ENCEPHALOPATHY

Publications

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

One heterozygous variant described in a 13 year old boy in the literature who presented with autism and developmental delay. No other evidence from literature or other sources to support link.
Created: 31 Oct 2017, 10:36 a.m.

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

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • INFANTILE EPILEPTIC ENCEPHALOPATHY
OMIM
605716
Clinvar variants
Variants in KCNH5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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: 0

Created

Ellen McDonagh (Genomics England Curator)

KCNH5 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNH5 was added to Intellectual disabilitypanel. Sources: Expert Review Red