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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Long QT Syndrome (D008133)
..Starting node ..Jervell-Lange Nielsen Syndrome (D029593)
Child Nodes:
........Jervell And Lange-Nielsen Syndrome 2 (C567343)
Sister Nodes:
..Andersen Syndrome (D050030)
..Jervell-Lange Nielsen Syndrome (D029593) 1
..Long Qt Syndrome 10 (C567514)
..Long Qt Syndrome 11 (C567513)
..Long Qt Syndrome 12 (C567842)
..LONG QT SYNDROME 13 (OMIM:613485)
..Long Qt Syndrome 2 (C563614)
..Long Qt Syndrome 2/3 (C565841)
..Long Qt Syndrome 2/5 (C566765)
..Long Qt Syndrome 3 (C565840)
..Long Qt Syndrome 3/6 (C566334)
..Long Qt Syndrome 4 (C563428)
..Long Qt Syndrome 5 (C566766)
..Long Qt Syndrome 6 (C566333)
..Long Qt Syndrome 9 (C567515)
..Long QT syndrome type 3 (C537034)
..Romano-Ward Syndrome (D029597) 1
..Timothy syndrome (C536962)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5963

Name:

Jervell-Lange Nielsen Syndrome

Definition:

A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).

Alternative IDs:

OMIM:220400

ParentIDs:

MESH:D008133

TreeNumbers:

C14.280.067.565.440 |C16.131.240.400.715.440

Synonyms:

Cardio-Auditory-Syncope Syndrome |Cardioauditory Syndrome of Jervell and Lange Nielsen |Cardioauditory Syndrome of Jervell and Lange-Nielsen |Deafness, Congenital, and Functional Heart Disease |Jervell and Lange Nielsen Syndrome |Jervell and Lange-Nielsen Syn

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: D029593
MeSH: D029593
OMIM: 220400;

Genes: KCNQ1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008527	Congenital sensorineural hearing impairment
3	HP:0001425	Heterogeneous
4	HP:0001657	Prolonged QT interval
5	HP:0001645	Sudden cardiac death
6	HP:0001279	Syncope
7	HP:0001664	Torsade de pointes

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000218.2(KCNQ1):c.1892_1911del20 (p.Pro631Hisfs)	-1	-	Pathogenic	397508103	RCV000003285; RCV000182287; RCV000046038;	N	MedGen:CN029864,OMIM:115000; MedGen:CN034131,OMIM:220400; MedGen:CN177655	11	2869094	2869113	NM_000218.2:c.1892_1911del20	NP_000209.2:p.Pro631Hisfs	NC_000011.9:g.2869094_2869113del20	OMIM Allelic Variant:607542.0026	CN029864 115000 Cardiac arrhythmia; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn)	3753	KCNE1	Likely pathogenic;Pathogenic	74315445	RCV000148512; RCV000014419; RCV000014420; RCV000222568; RCV000119080;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1867904,OMIM:613695; MedGen:C2676723,OMIM:612347; MedGen:CN034131,OMIM:220400; MedGen:CN221809	21	35821707	35821707	NM_000219.5:c.226G>A	NP_000210.2:p.Asp76Asn	NC_000021.8:g.35821707C>T	OMIM Allelic Variant:176261.0003	C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; C2676723 612347 Jervell and Lange-Nielsen syndrome 2; C1867904 613695 Long QT syndrome 5; CN221809 not provided
NM_000218.2(KCNQ1):c.2T>C (p.Met1Thr)	3784	KCNQ1	Pathogenic	199473485	RCV000046046; RCV000057656;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN034131,OMIM:220400	11	2466330	2466330	NM_000218.2:c.2T>C	NP_000209.2:p.Met1Thr	NC_000011.9:g.2466330T>C	-	C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_000218.2(KCNQ1):c.451_452delCT (p.Leu151Glyfs)	3784	KCNQ1	Pathogenic	397508110	RCV000003281; RCV000182294;	N	MedGen:CN034131,OMIM:220400; MedGen:CN221809	11	2549222	2549223	NM_000218.2:c.451_452delCT	NP_000209.2:p.Leu151Glyfs	NC_000011.9:g.2549222_2549223delCT	OMIM Allelic Variant:607542.0022	CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.513C>G (p.Tyr171Ter)	3784	KCNQ1	not provided	139042529	RCV000046070;	N	MedGen:CN034131,OMIM:220400	11	2591893	2591893	NM_000218.2:c.513C>G	NP_000209.2:p.Tyr171Ter	NC_000011.9:g.2591893C>G,NC_000011.9:g.2591893C>T	-	CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_000218.2(KCNQ1):c.567dupG (p.Arg190Alafs)	3784	KCNQ1	Pathogenic	397508117	RCV000003273; RCV000182266; RCV000046086;	N	MedGen:CN029864,OMIM:115000; MedGen:CN034131,OMIM:220400; MedGen:CN177655	11	2591947	2591947	NM_000218.2:c.567dupG	NP_000209.2:p.Arg190Alafs	NC_000011.9:g.2591947dupG	OMIM Allelic Variant:607542.0014	CN029864 115000 Cardiac arrhythmia; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_181798.1(KCNQ1):c.192_196delGCGCT (p.Arg65Cysfs)	3784	KCNQ1	Pathogenic	397508118	RCV000144973; RCV000182268; RCV000046091;	N	MedGen:CN034131,OMIM:220400; MedGen:CN177655; MedGen:CN221809	11	2591953	2591957	NM_181798.1:c.192_196delGCGCT	NP_861463.1:p.Arg65Cysfs		-	CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.585delG (p.Lys196Serfs)	3784	KCNQ1	Likely pathogenic;Pathogenic	397508120	RCV000046095; RCV000196205; RCV000182269; RCV000221253;	N	MedGen:C0022387, Orphanet:ORPHA90647,SNOMED CT:373905003; MedGen:C0023976,SNOMED CT:9651007; MedGen:CN034131,OMIM:220400; MedGen:CN221809	11	2591965	2591965	NM_000218.2:c.585delG	NP_000209.2:p.Lys196Serfs	NC_000011.9:g.2591965delG	-	C0022387 Jervell and Lange-Nielsen syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; C0023976 Long QT syndrome; CN221809 not provided
NM_000218.2(KCNQ1):c.604G>A (p.Asp202Asn)	3784	KCNQ1	Pathogenic	199472702	RCV000046096; RCV000182091; RCV000057718;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN034131,OMIM:220400; MedGen:CN221809	11	2591984	2591984	NM_000218.2:c.604G>A	NP_000209.2:p.Asp202Asn	NC_000011.9:g.2591984G>A,NC_000011.9:g.2591984G>C	-	C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.728G>A (p.Arg243His)	3784	KCNQ1	Pathogenic	120074196	RCV000046112; RCV000182305; RCV000057742;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN034131,OMIM:220400	11	2593287	2593287	NM_000218.2:c.728G>A	NP_000209.2:p.Arg243His	NC_000011.9:g.2593287G>A,NC_000011.9:g.2593287G>C	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_000218.2(KCNQ1):c.743_744delGGinsTC (p.Trp248Phe)	3784	KCNQ1	not provided	397508123	RCV000046115;	N	MedGen:CN034131,OMIM:220400	11	2593302	2593303	NM_000218.2:c.743_744delGGinsTC	NP_000209.2:p.Trp248Phe	NC_000011.9:g.2593302_2593303delGGinsTC	-	CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_000218.2(KCNQ1):c.783G>C (p.Glu261Asp)	3784	KCNQ1	Pathogenic	199472721	RCV000046127; RCV000057760;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN034131,OMIM:220400	11	2594078	2594078	NM_000218.2:c.783G>C	NP_000209.2:p.Glu261Asp	NC_000011.9:g.2594078G>C	-	C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_181798.1(KCNQ1):c.447_449delCTC (p.Ser150del)	3784	KCNQ1	Pathogenic	397508127	RCV000046140; RCV000182333; RCV000046139;	N	MedGen:CN034131,OMIM:220400; MedGen:CN177655; MedGen:CN221809	11	2594123	2594125	NM_181798.1:c.447_449delCTC	NP_861463.1:p.Ser150del		-	CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser)	3784	KCNQ1	Pathogenic	120074186	RCV000003275; RCV000182130; RCV000057796;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN034131,OMIM:220400; MedGen:CN221809	11	2594209	2594209	NM_000218.2:c.914G>C	NP_000209.2:p.Trp305Ser	NC_000011.9:g.2594209G>A,NC_000011.9:g.2594209G>C,NC_000011.9:g.2594209G>T	OMIM Allelic Variant:607542.0016	C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.921G>A (p.Val307=)	3784	KCNQ1	Pathogenic	397508131	RCV000046156; RCV000182133;	N	MedGen:CN034131,OMIM:220400; MedGen:CN221809	11	2594216	2594216	NM_000218.2:c.921G>A	NP_000209.2:p.Val307=	NC_000011.9:g.2594216G>A	-	CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.998_999delCT (p.Ser333Cysfs)	3784	KCNQ1	Pathogenic	397508134	RCV000046185; RCV000182273;	N	MedGen:CN034131,OMIM:220400; MedGen:CN221809	11	2604741	2604742	NM_000218.2:c.998_999delCT	NP_000209.2:p.Ser333Cysfs	NC_000011.9:g.2604741_2604742delCT	-	CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.1008delC (p.Ile337Serfs)	3784	KCNQ1	not provided	397508067	RCV000045927;	N	MedGen:CN034131,OMIM:220400	11	2604751	2604751	NM_000218.2:c.1008delC	NP_000209.2:p.Ile337Serfs	NC_000011.9:g.2604751delC	-	CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_000218.2(KCNQ1):c.1149dupT (p.Ala384Cysfs)	3784	KCNQ1	not provided	397508079	RCV000045969;	N	MedGen:CN034131,OMIM:220400	11	2608820	2608820	NM_000218.2:c.1149dupT	NP_000209.2:p.Ala384Cysfs	NC_000011.9:g.2608820dupT	-	CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_000218.2(KCNQ1):c.1189delC (p.Arg397Glyfs)	3784	KCNQ1	not provided	397508081	RCV000045975;	N	MedGen:CN034131,OMIM:220400	11	2608860	2608860	NM_000218.2:c.1189delC	NP_000209.2:p.Arg397Glyfs	NC_000011.9:g.2608860delC	-	CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs)	3784	KCNQ1	Pathogenic	397515637	RCV000003272;	N	MedGen:CN034131,OMIM:220400	11	2797229	2797234	NM_000218.2:c.1630_1635delCAGTACinsGTTGAGA	NP_000209.2:p.Gln544Valfs	NC_000011.9:g.2797229_2797234delCAGTACinsGTTGAGA	OMIM Allelic Variant:607542.0013	CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_000218.2(KCNQ1):c.1686-1G>A	3784	KCNQ1	not provided	397508098	RCV000046013;	N	MedGen:CN034131,OMIM:220400	11	2798215	2798215	NM_000218.2:c.1686-1G>A		NC_000011.9:g.2798215G>A	-	CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_000218.2(KCNQ1):c.1760C>T (p.Thr587Met)	3784	KCNQ1	Pathogenic	120074189	RCV000003286; RCV000182221; RCV000046026; RCV000057632;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN034131,OMIM:220400; MedGen:CN177655; MedGen:CN221809	11	2799233	2799233	NM_000218.2:c.1760C>T	NP_000209.2:p.Thr587Met	NC_000011.9:g.2799233C>T	OMIM Allelic Variant:607542.0027	C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp)	3784	KCNQ1	Pathogenic	120074190	RCV000003288; RCV000003289; RCV000182223; RCV000057633;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN034131,OMIM:220400; MedGen:CN221809	11	2799239	2799239	NM_000218.2:c.1766G>A	NP_000209.2:p.Gly589Asp	NC_000011.9:g.2799239G>A	OMIM Allelic Variant:607542.0029	C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; C0035828 192500 Long QT syndrome 1; CN221809 not provided