Joubert syndrome

Gene: PIBF1

Red List (low evidence)

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

1 review

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.

Phenotypes
Joubert syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • vermis hypoplasia
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
  • ataxia
  • developmental delay
OMIM
607532
Clinvar variants
Variants in PIBF1
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

5 Jul 2016, Gel status: 0

Created

Gabrielle Wheway (University of the West of England)

PIBF1 was created by GabielleWheway

5 Jul 2016, Gel status: 0

Added New Source

Gabrielle Wheway (University of the West of England)

PIBF1 was added to Joubert syndromepanel. Sources: Expert Review,Literature,Research