Diseases of the circulatory system
Other forms of heart disease
Autosomal recessive
21q22.12
Jervell and Lange-Nielsen Syndrome is an autosomal recessive condition characterized by abnormal heart rhythm associated with profound hearing loss. Affected children are deaf and have frequent fainting episodes when excited or stressed. JLNS2 is caused due to pathogenic mutations in the KCNE1 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612347.1.1 | Lebanon | Male | No | Prolonged QT interval; Severe sensorine... Prolonged QT interval; Severe sensorineural hearing impairment;  | NM_001127670.3:c.20C>T, NM_001127670.3:c.226G>A | Heterozygous | Autosomal, Recessive | Schulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b | ||
| 612347.1.2 | Lebanon | Female | No | Prolonged QT interval; Severe sensorine... Prolonged QT interval; Severe sensorineural hearing impairment; | NM_001127670.3:c.20C>T, NM_001127670.3:c.226G>A | Heterozygous | Autosomal, Recessive | Schulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b | Sibling of 612347.1.... | |
| 612347.1.3 | Lebanon | Female | No | Prolonged QT interval; Severe sensorin... Prolonged QT interval; Severe sensorineural hearing impairment; | NM_001127670.3:c.20C>T, NM_001127670.3:c.226G>A | Heterozygous | Autosomal, Recessive | Schulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b | Sibling of 612347.1.... |