Activity
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| Bilateral congenital or childhood onset cataracts v4.19 | LEMD2 | Achchuthan Shanmugasundram Classified gene: LEMD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.19 | LEMD2 | Achchuthan Shanmugasundram Gene: lemd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.18 | LEMD2 |
Achchuthan Shanmugasundram gene: LEMD2 was added gene: LEMD2 was added to Bilateral congenital or childhood onset cataracts. Sources: Literature founder-effect 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 26788539; 31061923 Phenotypes for gene: LEMD2 were set to Cataract 46, juvenile-onset, OMIM:212500 Review for gene: LEMD2 was set to AMBER Added comment: PMID:2678853 reported the identification of the homozygous missense LEMD2 variant (p.Thr38Gly) in 17 members of four unrelated Lehrerleut Hutterite kindreds with juvenile cataract. The age of cataract presentation was mostly between 3 and 7 years with the exception of an individual presenting at the age of 26 years. In two of the pedigrees, seven individuals died of sudden, apparently arrhythmogenic events in the third through fifth decades; six of those patients also had juvenile-onset cataracts. PMID:31061923 reported 19 members from two extended Hutterite kindreds that had juvenile cataract with or without arrhythmic cardiomyopathy. One of these kindreds were reported previously in PMID:2678853. A homozygous p.Leu13Arg variant was identified in the other kindred that was not previously reported in literature. The homozygous variant was also identified in one apparently unaffected carrier, a 13-year-old girl without cataract who was believed to be presymptomatic. Sources: Literature |
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