Entry Search - 160120 176260

Search: '160120 176260 (Search in: MIM number)'

Results: 2 entries.

* 176260. POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 1; KCNA1
Cytogenetic location: 12p13.32, Genomic coordinates (GRCh38): 12:4,909,905-4,918,256
Matching terms: 176260
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12p13.32	Episodic ataxia/myokymia syndrome	160120	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 421182009

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# 160120. EPISODIC ATAXIA, TYPE 1; EA1
MYOKYMIA 1, INCLUDED
Cytogenetic location: 12p13.32
Matching terms: 160120
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12p13.32	Episodic ataxia/myokymia syndrome	160120	AD	3	KCNA1	176260

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Episodic ataxia - PS160120 - 9 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.13-p34.3	Episodic ataxia, type 8	AD	2	616055	EA8	616055
1q42	Episodic ataxia, type 3	AD	2	606554	EA3	606554
2q23.3	Episodic ataxia, type 5	AD	3	613855	CACNB4	601949
2q24.3	Episodic ataxia, type 9	AD	3	618924	SCN2A	182390
5p13.2	Episodic ataxia, type 6	AD	3	612656	SLC1A3	600111
12p13.32	Episodic ataxia/myokymia syndrome	AD	3	160120	KCNA1	176260
19p13.13	Episodic ataxia, type 2	AD	3	108500	CACNA1A	601011
19q13	Episodic ataxia, type 7	AD	2	611907	EA7	611907
Not Mapped	Episodic ataxia, type 4	AD		606552	EA4	606552

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Links
Testing GTR EuroGentest Episodic ataxia type 1 Hereditary continuous musc…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Episodic ataxia type 1 Hereditary continuous musc… Gene Reviews Genetic Alliance GTR GARD Hereditary continuous musc… Episodic ataxia type 1 OrphaNet Episodic ataxia type 1 Hereditary continuous musc…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 421182009 ORPHA: 37612, 972 DO: 0050989

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Search: 160120 176260 (Search in: MIM number)

Results: 2 entries.

* 176260. POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 1; KCNA1
Cytogenetic location: 12p13.32, Genomic coordinates (GRCh38): 12:4,909,905-4,918,256
Matching terms: 176260

# 160120. EPISODIC ATAXIA, TYPE 1; EA1
MYOKYMIA 1, INCLUDED
Cytogenetic location: 12p13.32
Matching terms: 160120

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