Joubert syndrome
Gene: PIBF1

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

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

PMID: 26167768

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

Panel version: 0.41

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

PMID: 26167768

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