PIBF1

progesterone immunomodulatory binding factor 1
OMIM: 607532, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PIBF1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	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 4.3 Latest signed off version: v4.0 (1 May 2024) 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 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) 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 1.172	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 4.1 Latest signed off version: v4.0 (1 May 2024) 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 4.1 Latest signed off version: v4.0 (1 May 2024) 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 3.6 Latest signed off version: v3.5 (1 May 2024) 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