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Intellectual disability

Gene: PIBF1

No list

PIBF1 (progesterone immunomodulatory binding factor 1)
EnsemblGeneIds (GRCh38): ENSG00000083535
EnsemblGeneIds (GRCh37): ENSG00000083535
OMIM: 607532, Gene2Phenotype
PIBF1 is in 5 panels

1 review

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

Details

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

History Filter Activity

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