| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.348 | LEMD2 | Seb Lunke Marked gene: LEMD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.348 | LEMD2 | Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.348 | LEMD2 | Seb Lunke Classified gene: LEMD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.348 | LEMD2 | Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.347 | LEMD2 |
Seb Lunke gene: LEMD2 was added gene: LEMD2 was added to Cataract. Sources: Literature founder tags were added to gene: LEMD2. Mode of inheritance for gene: LEMD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660 Phenotypes for gene: LEMD2 were set to Cataract 46, juvenile-onset, OMIM# 212500 Review for gene: LEMD2 was set to AMBER Added comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely. Later, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398) Most recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660). It appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time. Sources: Literature |
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