18 Aug 2020
Rare multisystem ciliopathy disorders v1.129
PIBF1
Arina Puzriakova Publications for gene: PIBF1 were set to 26167768
18 Aug 2020
Rare multisystem ciliopathy disorders v1.128
PIBF1
Arina Puzriakova Classified gene: PIBF1 as Green List (high evidence)
18 Aug 2020
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.
18 Aug 2020
Rare multisystem ciliopathy disorders v1.128
PIBF1
Arina Puzriakova Gene: pibf1 has been classified as Green List (High Evidence).
18 Aug 2020
Rare multisystem ciliopathy disorders v1.127
PIBF1
Arina Puzriakova Tag for-review was removed from gene: PIBF1.
18 Aug 2020
Rare multisystem ciliopathy disorders v1.127
PIBF1
Arina Puzriakova Tag for-review tag was added to gene: PIBF1.
18 Aug 2020
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
25 Jan 2017
Rare multisystem ciliopathy disorders
PIBF1
Alice Gardham marked PIBF1 as ready
25 Jan 2017
Rare multisystem ciliopathy disorders
PIBF1
Alice Gardham commented on PIBF1
28 Aug 2016
Rare multisystem ciliopathy disorders
PIBF1
Ellen McDonagh added PIBF1 to panel
28 Aug 2016
Rare multisystem ciliopathy disorders
PIBF1
Ellen McDonagh reviewed PIBF1