PIBF1

progesterone immunomodulatory binding factor 1
OMIM: 607532, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PIBF1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Joubert syndrome 33, OMIM #617767

Green PIBF1 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.28

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 33, OMIM #617767

Green PIBF1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 33
  • OMIM #617767

Green PIBF1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 33, OMIM #617767

No list PIBF1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • OMIM# 617767: JOUBERT SYNDROME 33
  • JBTS33

Green PIBF1 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Literature
Phenotypes
  • Joubert syndrome 33, MONDO:0033311
  • Joubert syndrome 33, OMIM:617767

Green PIBF1 in Prepair 1000+


Level 2: Screening
Version 1.1586

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 33 (MIM#617767)

Green PIBF1 in Prepair 500+


Level 2: Screening
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 33 (MIM#617767)