Metal Metabolism Disorders
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780
- Disorders of magnesium metabolism
- OMIM
- 602208
- Clinvar variants
- Variants in KCNJ10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Deafness_IsolatedAndComplex
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Renal Tubulopathies and related disorders
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KCNJ10 was added gene: KCNJ10 was added to Metal Metabolism Disorders. Sources: Expert Review Green Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ10 were set to 19289823, 21849804, 11466414 Phenotypes for gene: KCNJ10 were set to EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780; Disorders of magnesium metabolism