Joubert syndrome and other neurological ciliopathies
Gene: PIBF1EnsemblGeneIds (GRCh38): ENSG00000083535
EnsemblGeneIds (GRCh37): ENSG00000083535
OMIM: 607532, Gene2Phenotype
PIBF1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Another family reported.Created: 16 Oct 2020, 6:45 a.m. | Last Modified: 16 Oct 2020, 6:45 a.m.
Panel Version: 0.86
7 families altogether: 3 of these are Hutterite and share the same founder variant.
Sources: Expert listCreated: 10 Feb 2020, 4:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 33, OMIM #617767
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome 33, OMIM #617767
- OMIM
- 607532
- Clinvar variants
- Variants in PIBF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pibf1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pibf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PIBF1 was added gene: PIBF1 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797 Phenotypes for gene: PIBF1 were set to Joubert syndrome 33, OMIM #617767 Review for gene: PIBF1 was set to GREEN