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Intellectual disability

Gene: PIBF1

Amber List (moderate evidence)

PIBF1 (progesterone immunomodulatory binding factor 1)
EnsemblGeneIds (GRCh38): ENSG00000083535
EnsemblGeneIds (GRCh37): ENSG00000083535
OMIM: 607532, Gene2Phenotype
PIBF1 is in 6 panels

2 reviews

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

Joubert syndrome 33, 617767


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

Joubert syndrome 33; OMIM #617767


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


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Joubert syndrome 33
  • OMIM #617767
Clinvar variants
Variants in PIBF1
Panels with this gene

History Filter Activity

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