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TEST Undiagnosed metabolic disorders

Gene: KCNQ1

No list

KCNQ1 (potassium voltage-gated channel subfamily Q member 1)
EnsemblGeneIds (GRCh38): ENSG00000053918
EnsemblGeneIds (GRCh37): ENSG00000053918
OMIM: 607542, Gene2Phenotype
KCNQ1 is in 9 panels

1 review

Ivone Leong (test)

Green List (high evidence)

TEST addition
Sources: Other
Created: 20 Aug 2019, 12:12 p.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
None
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance

Ivone Leong (test)

gene: KCNQ1 was added gene: KCNQ1 was added to TEST Undiagnosed metabolic disorders. Sources: Other Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: KCNQ1 was set to GREEN