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Rare multisystem ciliopathy disorders v1.129 PIBF1 Arina Puzriakova Publications for gene: PIBF1 were set to 26167768
Rare multisystem ciliopathy disorders v1.128 PIBF1 Arina Puzriakova Classified gene: PIBF1 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.128 PIBF1 Arina Puzriakova Added comment: Comment on list classification: With the addition of the two recent reports, there are now at least 7 total families (4 with same founder variant) with Joubert syndrome associated with biallelic variants in this gene.
Rare multisystem ciliopathy disorders v1.128 PIBF1 Arina Puzriakova Gene: pibf1 has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.127 PIBF1 Arina Puzriakova Tag for-review was removed from gene: PIBF1.
Rare multisystem ciliopathy disorders v1.127 PIBF1 Arina Puzriakova Tag for-review tag was added to gene: PIBF1.
Rare multisystem ciliopathy disorders v1.127 PIBF1 Arina Puzriakova reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804; Phenotypes: Joubert syndrome 33, 617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders PIBF1 Alice Gardham marked PIBF1 as ready
Rare multisystem ciliopathy disorders PIBF1 Alice Gardham commented on PIBF1
Rare multisystem ciliopathy disorders PIBF1 Ellen McDonagh added PIBF1 to panel
Rare multisystem ciliopathy disorders PIBF1 Ellen McDonagh reviewed PIBF1