1. Genes and Genomic Entities
  2. PIBF1

PIBF1

progesterone immunomodulatory binding factor 1
OMIM: 607532, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green PIBF1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 33, OMIM:617767
  • Joubert syndrome 33, MONDO:0033311
Green PIBF1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME 33, OMIM:617767
    Green PIBF1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 33
    • OMIM #617767
    Green PIBF1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Research
    • Expert Review
    Phenotypes
    • Joubert syndrome
    • vermis hypoplasia
    • thick superior cerebellar peduncles
    • superior cerebellar dysplasia
    • ataxia
    • developmental delay
    Red PIBF1 in Ophthalmological ciliopathies


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    • Literature
    • Research
    Phenotypes
    • Joubert syndrome
    • ataxia
    • vermis hypoplasia
    • developmental delay
    • thick superior cerebellar peduncles
    • superior cerebellar dysplasia
    Green PIBF1 in Neurological ciliopathies


    Level 2: Neurology
    Version 6.13
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 33, OMIM:617767
    • ataxia
    • vermis hypoplasia
    • developmental delay
    • thick superior cerebellar peduncles
    • superior cerebellar dysplasia
    Red PIBF1 in Renal ciliopathies


    Level 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    • Literature
    • Research
    Phenotypes
    • Joubert syndrome
    • ataxia
    • vermis hypoplasia
    • developmental delay
    • thick superior cerebellar peduncles
    • superior cerebellar dysplasia