Panel: DD Gene: KCNQ3 Disease: KCNQ3 syndrome

KCNQ3

Gene symbol
KCNQ3
OMIM MIM
Ensembl stable ID
ENSG00000184156
Synonyms
EBN2
Location

Gene-Disease Attributes

Disease confidence
confirmed

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Allelic requirement
monoallelic
Mutation consequence summary
all missense/in frame

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biallelic
digenic
digenic (biallelic)
digenic (tetra-allelic)
digenic (triallelic)
hemizygous
imprinted
mitochondrial
monoallelic
monoallelic (X; hemizygous)
monoallelic (X; heterozygous)
monoallelic (Y)
monoallelic (autosome)
monoallelic (autosome; obligate mosaic)
mosaic
mtDNA (heteroplasmic)
mtDNA (homoplasmic)
uncertain
x-linked dominant
x-linked over-dominance

Publications

Phenotypes

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Bone Marrow/Immune
Brain/Cognition
Cancer predisposition
Ear
Endocrine
Endocrine/Metabolic
Eye
Face
GI tract
Genitalia
Hair/Nails
Heart/Cardiovasculature
Heart/Cardiovasculature/Lymphatic
Kidney Renal Tract
Liver
Lungs
Multisystem
Musculature
Peripheral nerves
Respiratory tract
Skeleton
Skin
Spinal cord/Peripheral nerves
Teeth & Dentitian

Disease

MIM

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Variants