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Ophthalmological ciliopathies v1.8 | PIBF1 | Arina Puzriakova Classified gene: PIBF1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ophthalmological ciliopathies v1.8 | PIBF1 | Arina Puzriakova Added comment: Comment on list classification: Keeping rating Red as ophthalmological phenotype has been absent from all cases reported to date. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ophthalmological ciliopathies v1.8 | PIBF1 | Arina Puzriakova Gene: pibf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ophthalmological ciliopathies v1.7 | PIBF1 | Arina Puzriakova Publications for gene: PIBF1 were set to 26167768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ophthalmological ciliopathies v1.6 | PIBF1 | Arina Puzriakova reviewed gene: PIBF1: Rating: ; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804; Phenotypes: Joubert syndrome 33, 617767; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ophthalmological ciliopathies v0.1 | PIBF1 |
Ivone Leong gene: PIBF1 was added gene: PIBF1 was added to Ophthalmological ciliopathies. Sources: Research,Literature,Expert Review Red,Expert Review Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 26167768 Phenotypes for gene: PIBF1 were set to Joubert syndrome; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia |