NOTCH3

notch 3
OMIM: 600276, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red NOTCH3 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.4	review	Not set	Sources Literature
Red NOTCH3 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Yorkshire and North East GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Green NOTCH3 in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.84	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes Dementia
Amber NOTCH3 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.13 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 Amber Phenotypes neurodevelopmental disorder, MONDO:0700092 leukodystrophy, MONDO:0019046 Tags Q3_25_promote_green Q3_25_NHS_review
Green NOTCH3 in Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.18	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green UKGTN Other Eligibility statement prior genetic testing Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Red NOTCH3 in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes ?Myofibromatosis, infantile 2, OMIM:615293
Green NOTCH3 in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 neurodevelopmental disorder, MONDO:0700092 leukodystrophy, MONDO:0019046 Tags Q3_25_MOI
Red NOTCH3 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Amber NOTCH3 in Multiple monogenic benign skin tumours Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes ?Myofibromatosis, infantile 2, OMIM:615293 myofibromatosis, infantile, 2, MONDO:0014122 Tags watchlist
Amber NOTCH3 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q3_25_promote_green Q3_25_NHS_review
Green NOTCH3 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Red NOTCH3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INFANTILE MYOFIBROMATOSIS 615293
Green NOTCH3 in Paediatric disorders - additional genes Level 2: Developmental disorders Version 7.31 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Lateral meningocele syndrome, OMIM:130720
Amber NOTCH3 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags dd_review Q3_25_promote_green
Amber NOTCH3 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags dd_review Q3_25_promote_green
Green NOTCH3 in CADASIL Level 2: Neurology Version 1.6 Latest signed off version: v1.0 (14 Sep 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, MONDO:0000914