Ophthalmological ciliopathies
Gene: PIBF1Comment on list classification: Keeping rating Red as ophthalmological phenotype has been absent from all cases reported to date.Created: 19 Aug 2020, 10:43 a.m. | Last Modified: 19 Aug 2020, 10:43 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. However, childhood onset cone-rod dystrophy was absent in all affected individuals. 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). No details regarding an ophthalmological phenotype in these 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. Retinal dystrophy was absent. 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. Ophthalmological examination including fundoscopy at age 3 years showed no abnormalities. Functional data using the frog Xenopus as an animal model, demonstrates defects in cilia functions.Created: 19 Aug 2020, 10:40 a.m. | Last Modified: 19 Aug 2020, 10:40 a.m.
Panel Version: 1.6
Phenotypes
Joubert syndrome 33, 617767
Publications
Comment when marking as ready: Low evidenceCreated: 25 Jan 2017, 1:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; vermis hypoplasia; thick superior cerebellar peduncles; superior cerebellar dysplasia; ataxia; developmental delay
Publications
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
Gene: pibf1 has been classified as Red List (Low Evidence).
Publications for gene: PIBF1 were set to 26167768
gene: PIBF1 was added gene: PIBF1 was added to Ophthalmological 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