PhenoModifier-Disease Detail

Disorder "Familial long QT syndrome"

Found 2 records

Disorder information

Disorder name:

Familial long QT syndrome

Disoder ID:

Orphanet_768

OMIM entry:

OMIM:613485 ,OMIM:612955 ,OMIM:611818 ,OMIM:603830 ,OMIM:611820 ,OMIM:616249 ,OMIM:601005 ,OMIM:220400 ,OMIM:612347 ,OMIM:616247 ,OMIM:192500 ,OMIM:611819 ,OMIM:600919 ,OMIM:613695 ,OMIM:613693 ,OMIM:613688

Synonyms:

Congenital long QT syndrome

Definition:

Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.

Modifier statisitcs

Record:

2

Gene:

2

Variant:

2

Reference:

1

Effect type:

Expressivity(2)

Modifier effect:

Altered severity(2)

Modifier gene	Variant	Effect type	Modifier effect	Evidence	Effect	PubMed ID
REM2	REM2:c.287G>C(p.Gly96Ala)	Expressivity	Altered severity	Pedigree analysis	The polymorphism is associated with the disease severity.more	29431731 more
KCNK17	KCNK17:rs10947804	Expressivity	Altered severity	Pedigree analysis	The polymorphism is associated with the disease severity.more	29431731 more

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