Epileptic encephalopathy
Gene: KCNJ10EnsemblGeneIds (GRCh38): ENSG00000177807
EnsemblGeneIds (GRCh37): ENSG00000177807
OMIM: 602208, Gene2Phenotype
KCNJ10 is in 12 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Scholl et al (2009)
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Scholl et al (2009)
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Scholl et al (2009)
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Scholl et al (2009)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Confirmed DD gene and all reviewers agree.Created: 20 Jan 2016, 12:22 p.m.
Comment on phenotypes: Sourced from G2P and OMIM.Created: 20 Jan 2016, 12:21 p.m.
Comment on mode of inheritance: Confirmed on G2P.Created: 20 Jan 2016, 12:20 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME)
- SESAME syndrome
- OMIM
- 602208
- Clinvar variants
- Variants in KCNJ10
- Penetrance
- Complete
- Publications
-
- Scholl et al (2009)
- Panels with this gene
-
- Familial Neural Tube Defects
- Monogenic hearing loss
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Renal tubulopathies
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME); SESAME syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KCNJ10 were set to Scholl et al (2009)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNJ10 was changed to BIALLELIC, autosomal or pseudoautosomal
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)KCNJ10 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)KCNJ10 was added to Epileptic encephalopathypanel. Sources: Expert