Genomics England
GMS Panels
Panels
Genes and Entities

PIBF1

progesterone immunomodulatory binding factor 1
OMIM: 607532
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 33, OMIM:617767, Joubert syndrome 33, MONDO:0033311
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 33, OMIM #617767
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 33, OMIM:617767, ataxia, vermis hypoplasia, developmental delay, thick superior cerebellar peduncles, superior cerebellar dysplasia