| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2280 | C1orf127 | Zornitza Stark Marked gene: C1orf127 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2280 | C1orf127 | Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2280 | C1orf127 | Zornitza Stark Classified gene: C1orf127 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2280 | C1orf127 | Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2279 | C1orf127 |
Zornitza Stark gene: C1orf127 was added gene: C1orf127 was added to Mendeliome. Sources: Literature new gene name tags were added to gene: C1orf127. Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1orf127 were set to 39753129 Phenotypes for gene: C1orf127 were set to Heterotaxy, visceral, MONDO:0018677, CIROZ-related Review for gene: C1orf127 was set to GREEN Added comment: 16 individuals from 10 families reported with bi-allelic variants in this gene and heterotaxy, including CHD. Supportive mouse model. CIROZ is absent or obsolete in select animals with motile cilia at their left-right organiser, including Carnivora, Atherinomorpha fish, or jawless vertebrates. Knockouts in zebrafish and Xenopus did not have observable LR anomalies. Approved HGNC name is CIROZ. Sources: Literature |
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