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Mendeliome v0.12860 | FAM149B1 | Bryony Thompson Phenotypes for gene: FAM149B1 were changed from Joubert; Ciliopathy to Joubert syndrome 36 MONDO:0032902; Ciliopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.825 | FAM149B1 | Alison Yeung Marked gene: FAM149B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.825 | FAM149B1 | Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.824 | FAM149B1 | Alison Yeung Classified gene: FAM149B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.824 | FAM149B1 | Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.822 | FAM149B1 |
Alison Yeung gene: FAM149B1 was added gene: FAM149B1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM149B1 were set to PMID: 30905400 Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy Review for gene: FAM149B1 was set to GREEN gene: FAM149B1 was marked as current diagnostic Added comment: Four unrelated families reported Sources: Literature |