| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.570 | MBTPS1 | Zornitza Stark Marked gene: MBTPS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.570 | MBTPS1 | Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.570 | MBTPS1 | Zornitza Stark Classified gene: MBTPS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.570 | MBTPS1 | Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.569 | MBTPS1 |
Zornitza Stark gene: MBTPS1 was added gene: MBTPS1 was added to Cataract. Sources: Literature Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBTPS1 were set to 38337829; 38135440; 36714646; 35362222; 32420688 Phenotypes for gene: MBTPS1 were set to CAOP syndrome, MIM# 621252; Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM# 618392 Review for gene: MBTPS1 was set to GREEN Added comment: PMID 32420688, 35362222, 36714646, 38135440 and 38337829 collectively report six unrelated families with biallelic loss‑of‑function MBTPS1 variants causing (i) a spondyloepimetaphyseal/spondyloepiphyseal dysplasia with congenital cataract, (ii) CAOP syndrome (cataract, alopecia, oral mucosal disorder, psoriasis‑like skin disease). Sources: Literature |
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