Neurological ciliopathies
Gene: PIBF1EnsemblGeneIds (GRCh38): ENSG00000083535
EnsemblGeneIds (GRCh37): ENSG00000083535
OMIM: 607532, Gene2Phenotype
PIBF1 is in 7 panels
6 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:57 p.m. | Last Modified: 8 Mar 2022, 3:57 p.m.
Panel Version: 1.26
Arina Puzriakova (Genomics England Curator)
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.Created: 19 Aug 2020, 10:50 a.m. | Last Modified: 19 Aug 2020, 10:50 a.m.
Panel Version: 1.8
Associated with Joubert syndrome in OMIM, and a confirmed gene in G2P.
PMID: 26167768 (2015) - Homozygous founder variant (c.1910A>C, p.Asp637Ala) identified in six individuals from four Hutterite families affected with Joubert syndrome. Analysis of an additional 643 Joubert families revealed 7 families with heterozygous truncating PIBF1 variants - unclear whether these were monoallelic or compound heterozygous (one comp het case, UW155-3, included in supplementary data).
PMID: 29695797 (2018) - Biallelic in-frame insertion (p.Gln394_Leu395ins12) of 36-bp in exon 9 of PIBF1 was identified in a two-year-old girl with Joubert syndrome. The variant segregated with the phenotype, however no further functional validation was performed.
PMID: 30858804 (2019) - Compound heterozygous variants (p.Y503C and p.Q485*) identified in a patient with Joubert syndrome. Functional data using the frog Xenopus as an animal model, demonstrates defects in cilia functions.Created: 19 Aug 2020, 10:49 a.m. | Last Modified: 19 Aug 2020, 10:49 a.m.
Panel Version: 1.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 33, 617767
Publications
Zornitza Stark (Australian Genomics)
7 families altogether now: 3 of these are Hutterite and share the same founder variant.Created: 10 Feb 2020, 4:48 a.m. | Last Modified: 10 Feb 2020, 4:48 a.m.
Panel Version: 1.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 33, OMIM #617767
Publications
Variants in this GENE are reported as part of current diagnostic practice
Alice Gardham (Genomics England)
Comment when marking as ready: Low evidenceCreated: 25 Jan 2017, 1:56 p.m.
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; vermis hypoplasia; thick superior cerebellar peduncles; superior cerebellar dysplasia; ataxia; developmental delay
Publications
Gabrielle Wheway (University of the West of England)
Homozygous c.1910A>C p.Asp637Ala missense mutation in 4 Hutterite Joubert families. Hypomorphic mutation rather than complete null. This allele didn't rescue loss of cilia after Pibf1 siRNA knockdown in cell cultures, but expression of wild-type PIBF1 did. 7 Joubert families with heterozygous PIBF1 mutations, unknown clinical relevanceCreated: 5 Jul 2016, 3:41 p.m.
Phenotypes
Joubert syndrome
Publications
- PMID: 26167768
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Joubert syndrome 33, OMIM:617767
- ataxia
- vermis hypoplasia
- developmental delay
- thick superior cerebellar peduncles
- superior cerebellar dysplasia
- OMIM
- 607532
- Clinvar variants
- Variants in PIBF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: PIBF1 were changed from Joubert syndrome; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia to Joubert syndrome 33, OMIM:617767; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: PIBF1.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to PIBF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: PIBF1.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PIBF1 were set to 26167768
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: pibf1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PIBF1 was added gene: PIBF1 was added to Neurological ciliopathies. Sources: Expert Review Red 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