Familial Neural Tube Defects
Gene: KCNJ10
KCNJ10 (potassium voltage-gated channel subfamily J member 10)
EnsemblGeneIds (GRCh38): ENSG00000177807
EnsemblGeneIds (GRCh37): ENSG00000177807
OMIM: 602208, Gene2Phenotype
KCNJ10 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000177807
EnsemblGeneIds (GRCh37): ENSG00000177807
OMIM: 602208, Gene2Phenotype
KCNJ10 is in 12 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Phenotypes
-
- Seizures, sensorineural deafness, ataxia, mental retardation
- OMIM
- 602208
- Clinvar variants
- Variants in KCNJ10
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Familial Neural Tube Defects
- Monogenic hearing loss
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Renal tubulopathies
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
History Filter Activity
25 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
22 Sep 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)KCNJ10 was created by oniblock
22 Sep 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)KCNJ10 was added to Familial Neural Tube Defectspanel. Sources: UKGTN