PRF1

perforin 1
OMIM: 170280, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green PRF1 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: familial predisp to leukaemia (typ AD) various leukaemia lymphoma Lymphoma, Leukaemia
No list PRF1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonimmune hydrops fetalis
Green PRF1 in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Phenotypes Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias FHL2 HPLH2 Familial hemophagocytic lymphohistiocytosis syndromes (FHLH) Diseases of Immune Dysregulation Hemophagocytic lymphohistiocytosis, familial 2, 603553 HLH2
Red PRF1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red
Green PRF1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.85 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553 Tags early-onset
Red PRF1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list
Green PRF1 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.40 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Class: familial predisp to leukaemia (typ AD) various leukaemia lymphoma Lymphoma, Leukaemia
Green PRF1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Aplastic anaemia, OMIM:609135 Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Amber PRF1 in Autoinflammatory disorders Level 2: Immunology Version 2.35 Latest signed off version: v2.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Green PRF1 in Haemophagocytic syndrome with absent perforin expression Level 2: Immunology Version 1.4 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553 familial hemophagocytic lymphohistiocytosis 2, MONDO:0011337