PSEN1

presenilin 1
OMIM: 104311, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green PSEN1 in Familial hidradenitis suppurativa Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Acne inversa, familial, 3, 613737
Green PSEN1 in COVID-19 research Level 2: Viral research Version 1.142	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification February 2018 IUIS Classification February 2018 Phenotypes Hidradenitis suppurative with cutaneous hyperpigmentation Acne inversa, familial, 3 613737 Defects in Intrinsic and Innate Immunity
Green PSEN1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Radboud University Medical Center, Nijmegen Phenotypes Acne inversa, familial, 3, 613737 Alzheimer disease, type 3, 607822 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 Cardiomyopathy, dilated, 1U, 613694 Dementia, frontotemporal, 600274 Pick disease, 172700 Clinical syndrome Alzheimer disease
Red PSEN1 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Amber PSEN1 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Phenotypes ACNE INVERSA, FAMILIAL, 3 ACNINV3
Green PSEN1 in Adult onset leukodystrophy Version 3.24 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes Alzheimer disease, type 3, OMIM:607822 Alzheimer disease 3, MONDO:0011913 Dementia, frontotemporal, OMIM:600274 semantic dementia, MONDO:0010857
Amber PSEN1 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Cardiomyopathy, dilated, 1U
Red PSEN1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red IUIS Classification February 2018 Phenotypes Hidradenitis suppurative with cutaneous hyperpigmentation Defects in Intrinsic and Innate Immunity Acne inversa, familial, 3 613737
Red PSEN1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
Red PSEN1 in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Red NHS GMS London North GLH Radboud University Medical Center, Nijmegen Phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
Green PSEN1 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH South West GLH Expert Review Green NHS GMS London North GLH Phenotypes Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques Alzheimer disease, type 3, with spastic paraparesis and apraxia Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
Green PSEN1 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, OMIM:607822 Alzheimer disease, type 3, with spastic paraparesis and apraxia, OMIM:607822 Dystonia Dementia, frontotemporal, OMIM:600274 Pick disease, OMIM:172700 Alzheimer disease, type 3, OMIM:607822
Red PSEN1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Alzheimer disease, type 3, 607822 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 Dementia, frontotemporal, 600274 Pick disease, 172700
Red PSEN1 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Pick disease, 172700 Dementia, frontotemporal 600274 Alzheimer disease, type 3, 607822 Cardiomyopathy, dilated, 1U, 613694 Dystonia
Red PSEN1 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Phenotypes Alzheimer disease, type 3, 607822 Pick disease, 172700 Dementia, frontotemporal 600274 Cardiomyopathy, dilated, 1U, 613694
Green PSEN1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Acne inversa, familial, 3, 613737 Alzheimer disease, type 3, 607822 Pick disease, 172700 Cardiomyopathy, dilated, 1U, 613694 Dementia, frontotemporal, 600274 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822