PRF1

perforin 1
OMIM: 170280, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green PRF1 in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PRF1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	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 1.1902	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 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green
Green PRF1 in Immune_markers_WTS_UMCCR Level 2: Cancer Version 0.75	review	Unknown	Sources Expert list Expert Review Green Tags umccr
Red PRF1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	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 0.308 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
Red PRF1 in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2
Red PRF1 in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2
Red PRF1 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2
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 1.255	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Green PRF1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	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 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)