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  3. PIBF1
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Ciliopathies

Gene: PIBF1

Green List (high evidence)
PIBF1 (progesterone immunomodulatory binding factor 1)
EnsemblGeneIds (GRCh38): ENSG00000083535
EnsemblGeneIds (GRCh37): ENSG00000083535
OMIM: 607532, Gene2Phenotype
PIBF1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Another family reported.
Created: 16 Oct 2020, 6:44 a.m. | Last Modified: 16 Oct 2020, 6:44 a.m.
Panel Version: 0.212

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 33, OMIM #617767

Publications

Created: 16 Oct 2020, 6:44 a.m.
Last Modified: 16 Oct 2020, 6:44 a.m.
Panel version: 0.212

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

7 families altogether: 3 of these are Hutterite and share the same founder variant.
Sources: Expert list
Sources: Expert Review
Created: 3 May 2020, 11:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 33, OMIM #617767

Publications

Created: 3 May 2020, 11:59 p.m.

Panel version: 0.73

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Joubert syndrome 33, OMIM #617767
OMIM
607532
Clinvar variants
Variants in PIBF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIBF1 were set to PMID:26167768; 30858804; 29695797

4 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pibf1 has been classified as Green List (High Evidence).

4 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pibf1 has been classified as Green List (High Evidence).

3 May 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: PIBF1 was added gene: PIBF1 was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to PMID:26167768; 30858804; 29695797 Phenotypes for gene: PIBF1 were set to Joubert syndrome 33, OMIM #617767 Review for gene: PIBF1 was set to GREEN