Renal ciliopathies

Gene: PIBF1

Red List (low evidence)

PIBF1 (progesterone immunomodulatory binding factor 1)
EnsemblGeneIds (GRCh38): ENSG00000083535
EnsemblGeneIds (GRCh37): ENSG00000083535
OMIM: 607532, Gene2Phenotype
PIBF1 is in 7 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

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.
Created: 19 Aug 2020, 11:08 a.m. | Last Modified: 19 Aug 2020, 11:08 a.m.
Panel Version: 1.27
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). There was no mention of a renal phenotype for any of the affected individuals.

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. Authors did note cystic kidney disease. 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. No renal manifestations were described. Functional data using the frog Xenopus as an animal model, demonstrates defects in cilia functions.
Created: 19 Aug 2020, 11:07 a.m. | Last Modified: 19 Aug 2020, 11:07 a.m.
Panel Version: 1.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Joubert syndrome 33, 617767


Alice Gardham (Genomics England)

Comment when marking as ready: Low evidence
Created: 25 Jan 2017, 1:56 p.m.

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Joubert syndrome; vermis hypoplasia; thick superior cerebellar peduncles; superior cerebellar dysplasia; ataxia; developmental delay


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 relevance
Created: 5 Jul 2016, 3:41 p.m.

Joubert syndrome



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Expert Review
  • Literature
  • Research
  • Joubert syndrome
  • ataxia
  • vermis hypoplasia
  • developmental delay
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
Clinvar variants
Variants in PIBF1
Panels with this gene

History Filter Activity

19 Aug 2020, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PIBF1 were set to 26167768

19 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pibf1 has been classified as Red List (Low Evidence).

10 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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