| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.622 | TENM3 | Zornitza Stark Marked gene: TENM3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.622 | TENM3 | Zornitza Stark Gene: tenm3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.622 | TENM3 | Zornitza Stark Classified gene: TENM3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.622 | TENM3 | Zornitza Stark Gene: tenm3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.621 | TENM3 |
Zornitza Stark gene: TENM3 was added gene: TENM3 was added to Cataract. Sources: Literature Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TENM3 were set to 36911040; 32799327 Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM# 615145 Review for gene: TENM3 was set to AMBER Added comment: PMID 32799327 reports a family with a homozygous nonsense TENM3 variant causing congenital cataract, microphthalmia and coloboma. PMID 36911040 reports 2 unrelated families with biallelic TENM3 variants; family 1 has congenital cataract, microphthalmia, microcephaly and developmental delay, family 2 has esotropia with speech and motor delay. Sources: Literature |
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