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Fetal anomalies

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, 6:45 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 list
Created: 10 Feb 2020, 4:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 33, OMIM #617767

Publications

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

1 family of Schmiedeleut Hutterite descent with 2 affected brothers with Joubert syndrome had homozygous missense mutation in PIBF1 gene. Parents were heterozygous.

2 other Hutterite families with 3 affected children and same homozygous missense mutation in PIBF1 gene, suggesting a founder effect.

2 other unrelated individuals with compound heterozygous mutations in PIBF1 gene.

1 unrelated individual with compound heterozygous variants in PIBF1 gene, and functional evidence in the frog Xenopus.

1 unrelated individual with another homozygous missense mutation in PIBF1 gene, but no and functional evidence.
Sources: Literature
Created: 11 Dec 2019, 11:52 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
  • Genomics England PanelApp
  • Expert list
  • Literature
Phenotypes
  • Joubert syndrome 33, MONDO:0033311
  • Joubert syndrome 33, OMIM:617767
OMIM
607532
Clinvar variants
Variants in PIBF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, 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).

1 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIBF1 were set to

1 Feb 2022, 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).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIBF1 was added gene: PIBF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIBF1 were set to Joubert syndrome 33, MONDO:0033311; Joubert syndrome 33, OMIM:617767