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Intellectual disability

Gene: PIBF1

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
Created: 9 Mar 2022, 3:40 p.m.
Last Modified: 9 Mar 2022, 3:40 p.m.
Panel version: 3.1510

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least 7 families (4 with same founder variant) with Joubert syndrome, which is associated with global DD/ID.
Created: 18 Aug 2020, 11:02 a.m. | Last Modified: 18 Aug 2020, 11:02 a.m.
Panel Version: 3.256
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. Mild-moderate developmental delay was reported in all (but one patient who died at 15 days of age). 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).

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 global developmental delay, associated with Joubert syndrome. 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 (including global developmental delay). Includes functional data using the frog Xenopus as an animal model.
Created: 18 Aug 2020, 10:51 a.m. | Last Modified: 18 Aug 2020, 10:51 a.m.
Panel Version: 3.255

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 33, 617767

Publications

Created: 18 Aug 2020, 10:51 a.m.
Last Modified: 18 Aug 2020, 10:51 a.m.
Panel version: 3.255

Zornitza Stark (Australian Genomics)

Green List (high evidence)

7 families altogether: 3 of these are Hutterite and share the same founder variant.
Sources: Expert list
Created: 10 Feb 2020, 4:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 33; OMIM #617767

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 10 Feb 2020, 4:45 a.m.

Panel version: 3.0

Details

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

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: PIBF1.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PIBF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Aug 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: PIBF1.

18 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pibf1 has been classified as Amber List (Moderate Evidence).

10 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PIBF1 was added gene: PIBF1 was added to Intellectual disability. 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 gene: PIBF1 was marked as current diagnostic