Kcnq2-Related Disorders disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: KCN010 MIFTS: 7	Kcnq2-Related Disorders Categories: Rare diseases
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Aliases & Classifications for Kcnq2-Related Disorders

MalaCards integrated aliases for Kcnq2-Related Disorders:

Name: Kcnq2-Related Disorders ²⁴ ⁵³ ²⁹ ⁶

Characteristics:

GeneReviews:

²⁴

Penetrance For kcnq2-bfne, penetrance is incomplete, with about 77%-85% of individuals heterozygous for a pathogenic variant in kcnq2 showing neonatal or early-infantile seizures [plouin & neubauer 2012, grinton et al 2015]...

Classifications:

MalaCards categories:
Global: Rare diseases

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Summaries for Kcnq2-Related Disorders

NIH Rare Diseases : ⁵³ KCNQ2-related disorders are a group of epileptic diseases that start during the first 4 weeks of a child's life (neonatal period). The groups is made up of various different diseases whose signs and symptoms vary. The conditions range from the less severe form KCNQ2-related benign familial neonatal epilepsy (KCNQ2-BFNE) to the more severe form KCNQ2-related epileptic encephalopathy (KCNQ2-NEE). KCNQ2-BFNE is characterized by seizures that start in otherwise healthy infants around day 3 of life and usually go away within 1 to 4 months. KCNQ2-NEE is characterized by epilepsy and profound intellectual disability and seizures that begin in the first weeks of life and typically show little response to treatment. They usually go away in a few months to a few years but can return later in childhood. These disorders are caused by mutations in the KCNQ2 gene. Inheritance is autosomal dominant. Treatment is with antiseizure medications.

MalaCards based summary : Kcnq2-Related Disorders An important gene associated with Kcnq2-Related Disorders is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2).

GeneReviews: NBK32534

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Related Diseases for Kcnq2-Related Disorders

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Symptoms & Phenotypes for Kcnq2-Related Disorders

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Drugs & Therapeutics for Kcnq2-Related Disorders

Search Clinical Trials , NIH Clinical Center for Kcnq2-Related Disorders

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Genetic Tests for Kcnq2-Related Disorders

Genetic tests related to Kcnq2-Related Disorders:

#	Genetic test	Affiliating Genes
1	Kcnq2-Related Disorders ²⁹

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Anatomical Context for Kcnq2-Related Disorders

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Publications for Kcnq2-Related Disorders

Articles related to Kcnq2-Related Disorders:

#	Title	Authors	Year
1	KCNQ2-Related Disorders ( 20437616 )	Pagon R.A....Stephens K.	1993

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Genes for Kcnq2-Related Disorders

Genes related to Kcnq2-Related Disorders (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	419.52	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	LOC105372724	Uncharacterized LOC105372724	RNA Gene	7.91	GeneCards inferred via : Variants (show sections)
3	LOC105372720	Uncharacterized LOC105372720	RNA Gene	7.56	GeneCards inferred via : Variants (show sections)
4	LOC105372721	Uncharacterized LOC105372721	RNA Gene	7.56	GeneCards inferred via : Variants (show sections)

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Variations for Kcnq2-Related Disorders

ClinVar genetic disease variations for Kcnq2-Related Disorders:

⁶

(show top 50) (show all 58)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KCNQ2	NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val)	single nucleotide variant	Pathogenic	rs587777219	GRCh37	Chromosome 20, 62073781: 62073781
2	KCNQ2	NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val)	single nucleotide variant	Pathogenic	rs587777219	GRCh38	Chromosome 20, 63442428: 63442428
3	KCNQ2	NM_172107.3(KCNQ2): c.*4G> A	single nucleotide variant	Benign/Likely benign	rs1801508	GRCh37	Chromosome 20, 62037993: 62037993
4	KCNQ2	NM_172107.3(KCNQ2): c.*4G> A	single nucleotide variant	Benign/Likely benign	rs1801508	GRCh38	Chromosome 20, 63406640: 63406640
5	KCNQ2	NM_172107.3(KCNQ2): c.2065A> C (p.Ile689Leu)	single nucleotide variant	Benign/Likely benign	rs201701585	GRCh38	Chromosome 20, 63407198: 63407198
6	KCNQ2	NM_172107.3(KCNQ2): c.2065A> C (p.Ile689Leu)	single nucleotide variant	Benign/Likely benign	rs201701585	GRCh37	Chromosome 20, 62038551: 62038551
7	KCNQ2	NM_172107.3(KCNQ2): c.1253G> T (p.Gly418Val)	single nucleotide variant	Likely benign	rs201750561	GRCh38	Chromosome 20, 63419667: 63419667
8	KCNQ2	NM_172107.3(KCNQ2): c.1253G> T (p.Gly418Val)	single nucleotide variant	Likely benign	rs201750561	GRCh37	Chromosome 20, 62051020: 62051020
9	KCNQ2	NM_172107.3(KCNQ2): c.1065C> T (p.Asp355=)	single nucleotide variant	Benign/Likely benign	rs200395340	GRCh38	Chromosome 20, 63433862: 63433862
10	KCNQ2	NM_172107.3(KCNQ2): c.1065C> T (p.Asp355=)	single nucleotide variant	Benign/Likely benign	rs200395340	GRCh37	Chromosome 20, 62065215: 62065215
11	KCNQ2	NM_172107.3(KCNQ2): c.691-13G> A	single nucleotide variant	Likely benign	rs547887704	GRCh38	Chromosome 20, 63442544: 63442544
12	KCNQ2	NM_172107.3(KCNQ2): c.691-13G> A	single nucleotide variant	Likely benign	rs547887704	GRCh37	Chromosome 20, 62073897: 62073897
13	KCNQ2	NM_172107.3(KCNQ2): c.*413G> A	single nucleotide variant	Uncertain significance	rs886056919	GRCh37	Chromosome 20, 62037584: 62037584
14	KCNQ2	NM_172107.3(KCNQ2): c.*413G> A	single nucleotide variant	Uncertain significance	rs886056919	GRCh38	Chromosome 20, 63406231: 63406231
15	KCNQ2	NM_172107.3(KCNQ2): c.*412C> T	single nucleotide variant	Uncertain significance	rs886056920	GRCh37	Chromosome 20, 62037585: 62037585
16	KCNQ2	NM_172107.3(KCNQ2): c.*412C> T	single nucleotide variant	Uncertain significance	rs886056920	GRCh38	Chromosome 20, 63406232: 63406232
17	KCNQ2	NM_172107.3(KCNQ2): c.*248C> T	single nucleotide variant	Benign	rs6122440	GRCh37	Chromosome 20, 62037749: 62037749
18	KCNQ2	NM_172107.3(KCNQ2): c.*248C> T	single nucleotide variant	Benign	rs6122440	GRCh38	Chromosome 20, 63406396: 63406396
19	KCNQ2	NM_172107.3(KCNQ2): c.1281A> G (p.Gly427=)	single nucleotide variant	Uncertain significance	rs781056597	GRCh37	Chromosome 20, 62050992: 62050992
20	KCNQ2	NM_172107.3(KCNQ2): c.1281A> G (p.Gly427=)	single nucleotide variant	Uncertain significance	rs781056597	GRCh38	Chromosome 20, 63419639: 63419639
21	KCNQ2	NM_172107.3(KCNQ2): c.387+9C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs751969586	GRCh37	Chromosome 20, 62078091: 62078091
22	KCNQ2	NM_172107.3(KCNQ2): c.387+9C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs751969586	GRCh38	Chromosome 20, 63446738: 63446738
23	KCNQ2	NM_172107.3(KCNQ2): c.185C> G (p.Ala62Gly)	single nucleotide variant	Uncertain significance	rs796052612	GRCh38	Chromosome 20, 63472279: 63472279
24	KCNQ2	NM_172107.3(KCNQ2): c.185C> G (p.Ala62Gly)	single nucleotide variant	Uncertain significance	rs796052612	GRCh37	Chromosome 20, 62103632: 62103632
25	KCNQ2	NM_172107.3(KCNQ2): c.2252C> T (p.Ser751Leu)	single nucleotide variant	Uncertain significance	rs774002673	GRCh37	Chromosome 20, 62038364: 62038364
26	KCNQ2	NM_172107.3(KCNQ2): c.2252C> T (p.Ser751Leu)	single nucleotide variant	Uncertain significance	rs774002673	GRCh38	Chromosome 20, 63407011: 63407011
27	KCNQ2	NM_172107.3(KCNQ2): c.2209G> A (p.Gly737Ser)	single nucleotide variant	Uncertain significance	rs755013341	GRCh37	Chromosome 20, 62038407: 62038407
28	KCNQ2	NM_172107.3(KCNQ2): c.2209G> A (p.Gly737Ser)	single nucleotide variant	Uncertain significance	rs755013341	GRCh38	Chromosome 20, 63407054: 63407054
29	KCNQ2	NM_172107.3(KCNQ2): c.900C> T (p.Ile300=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs764404303	GRCh37	Chromosome 20, 62070978: 62070978
30	KCNQ2	NM_172107.3(KCNQ2): c.900C> T (p.Ile300=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs764404303	GRCh38	Chromosome 20, 63439625: 63439625
31	KCNQ2	NM_172107.3(KCNQ2): c.741G> A (p.Ser247=)	single nucleotide variant	Likely benign	rs184792288	GRCh37	Chromosome 20, 62073834: 62073834
32	KCNQ2	NM_172107.3(KCNQ2): c.741G> A (p.Ser247=)	single nucleotide variant	Likely benign	rs184792288	GRCh38	Chromosome 20, 63442481: 63442481
33	KCNQ2	NM_172107.3(KCNQ2): c.-107G> A	single nucleotide variant	Uncertain significance	rs886056923	GRCh38	Chromosome 20, 63472570: 63472570
34	KCNQ2	NM_172107.3(KCNQ2): c.-107G> A	single nucleotide variant	Uncertain significance	rs886056923	GRCh37	Chromosome 20, 62103923: 62103923
35	KCNQ2	NM_172107.3(KCNQ2): c.691-5C> T	single nucleotide variant	Uncertain significance	rs886056921	GRCh37	Chromosome 20, 62073889: 62073889
36	KCNQ2	NM_172107.3(KCNQ2): c.691-5C> T	single nucleotide variant	Uncertain significance	rs886056921	GRCh38	Chromosome 20, 63442536: 63442536
37	KCNQ2	NM_172107.3(KCNQ2): c.-88G> T	single nucleotide variant	Benign	rs185287315	GRCh38	Chromosome 20, 63472551: 63472551
38	KCNQ2	NM_172107.3(KCNQ2): c.-88G> T	single nucleotide variant	Benign	rs185287315	GRCh37	Chromosome 20, 62103904: 62103904
39	KCNQ2	NM_172107.3(KCNQ2): c.*421C> T	single nucleotide variant	Likely benign	rs578175518	GRCh37	Chromosome 20, 62037576: 62037576
40	KCNQ2	NM_172107.3(KCNQ2): c.*421C> T	single nucleotide variant	Likely benign	rs578175518	GRCh38	Chromosome 20, 63406223: 63406223
41	KCNQ2	NM_172107.3(KCNQ2): c.*295C> T	single nucleotide variant	Benign	rs34690549	GRCh37	Chromosome 20, 62037702: 62037702
42	KCNQ2	NM_172107.3(KCNQ2): c.*295C> T	single nucleotide variant	Benign	rs34690549	GRCh38	Chromosome 20, 63406349: 63406349
43	KCNQ2	NM_172107.3(KCNQ2): c.*110G> A	single nucleotide variant	Likely benign	rs141692577	GRCh37	Chromosome 20, 62037887: 62037887
44	KCNQ2	NM_172107.3(KCNQ2): c.*110G> A	single nucleotide variant	Likely benign	rs141692577	GRCh38	Chromosome 20, 63406534: 63406534
45	KCNQ2	NM_172107.3(KCNQ2): c.2469C> T (p.Ala823=)	single nucleotide variant	Uncertain significance	rs758071891	GRCh37	Chromosome 20, 62038147: 62038147
46	KCNQ2	NM_172107.3(KCNQ2): c.2469C> T (p.Ala823=)	single nucleotide variant	Uncertain significance	rs758071891	GRCh38	Chromosome 20, 63406794: 63406794
47	KCNQ2	NM_172107.3(KCNQ2): c.2049C> T (p.His683=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150982653	GRCh37	Chromosome 20, 62038567: 62038567
48	KCNQ2	NM_172107.3(KCNQ2): c.2049C> T (p.His683=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150982653	GRCh38	Chromosome 20, 63407214: 63407214
49	KCNQ2	NM_172107.3(KCNQ2): c.816+9T> C	single nucleotide variant	Conflicting interpretations of pathogenicity	rs772235691	GRCh37	Chromosome 20, 62073750: 62073750
50	KCNQ2	NM_172107.3(KCNQ2): c.816+9T> C	single nucleotide variant	Conflicting interpretations of pathogenicity	rs772235691	GRCh38	Chromosome 20, 63442397: 63442397

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Expression for Kcnq2-Related Disorders

Search GEO for disease gene expression data for Kcnq2-Related Disorders.

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Pathways for Kcnq2-Related Disorders

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GO Terms for Kcnq2-Related Disorders

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