PRF1

perforin 1
OMIM: 170280, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green PRF1 in Vasculitis Level 2: Immunological disorders Version 0.86	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PRF1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Aplastic anemia Hemophagocytic lymphohistiocytosis, familial, 2 AR Lymphoma, non-Hodgkin
Green PRF1 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aplastic anemia 609135 Hemophagocytic lymphohistiocytosis, familial, 2 603553 Lymphoma, non-Hodgkin 605027
Green PRF1 in Disorders of immune dysregulation Level 2: Immunological disorders Version 1.10 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services
Red PRF1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
Red PRF1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2 603553
Green PRF1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Green PRF1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2
Green PRF1 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Other Phenotypes Aplastic anaemia - #609135 Haemophagocytic lymphohistiocytosis, familial, 2 - #603553
Green PRF1 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
Green PRF1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 Tags treatable immunological
Green PRF1 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)