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Renal ciliopathies v1.28 | PIBF1 | Arina Puzriakova Publications for gene: PIBF1 were set to 26167768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.27 | PIBF1 | Arina Puzriakova Classified gene: PIBF1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.27 | PIBF1 | Arina Puzriakova Added comment: Comment on list classification: Keeping rating Red, as renal manifestation only reported in a single patient - awaiting further publications/clinical evidence to ascertain the contribution of variants in PIBF1 to this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.27 | PIBF1 | Arina Puzriakova Gene: pibf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.26 | PIBF1 | Arina Puzriakova reviewed gene: PIBF1: Rating: ; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804; Phenotypes: Joubert syndrome 33, 617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v0.1 | PIBF1 |
Eleanor Williams gene: PIBF1 was added gene: PIBF1 was added to Renal 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 |