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| Polydactyly v0.275 | RAB34 | Zornitza Stark Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.274 | RAB34 | Elena Savva Classified gene: RAB34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.274 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.273 | RAB34 | Elena Savva Classified gene: RAB34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.273 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.272 | RAB34 | Elena Savva Marked gene: RAB34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.272 | RAB34 | Elena Savva Gene: rab34 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.272 | RAB34 |
Elena Savva gene: RAB34 was added gene: RAB34 was added to Polydactyly. Sources: Literature Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to 37619988; 37384395 Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related Review for gene: RAB34 was set to GREEN Added comment: PMID: 37619988 - Compound heterozygous variants identified in a fetus with multiple malformations, including a combination of rarely occurring pre- and postaxial polydactyly. - Rab34-/- mice displayed polydactyly. PMID: 37384395 - Biallelic variants in RAB34 were identified in 3 unrelated families. All affected individuals presented a novel form of OFDS accompanied by prexial and central polydactyly/bilateral polysyndactyly Sources: Literature |
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