PIBF1

progesterone immunomodulatory binding factor 1
OMIM: 607532, Gene2Phenotype

7 panels

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


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

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 3.79
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    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 1.169

    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


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.15
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.4
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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