Incidentalome (Version 0.360)

Description

This panel was developed and is maintained by VCGS.

It contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.

These genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.

If analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).

Panel Activity

24 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Anna Le Fevre (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Ivan Macciocca (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Arina Puzriakova (Genomics England)
Edward Chew (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Michelle Torres (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Lucy Spencer (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)

151 Entities

145 reviewed, 119 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 151 Entitiess
Green Green List (high evidence)	ACTA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 6, MIM# 611788 Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 Tags cardiac
Green Green List (high evidence)	ANXA11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Amyotrophic lateral sclerosis 23, MIM# 617839 Tags adult onset neurodegenerative
Green Green List (high evidence)	APC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adenomatous polyposis coli, MIM# 175100 Tags cancer treatable
Green Green List (high evidence)	APOB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Hypercholesterolemia, familial, 2, MIM# 144010 Tags treatable
Green Green List (high evidence)	APOE	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease 2, MIM# 104310 Hyperlipoproteinemia, type III (MIM#617347) Sea-blue histiocyte disease (MIM#269600) Tags adult onset neurodegenerative
Green Green List (high evidence)	APP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alzheimer's Disease (MIM#104300) Tags adult onset neurodegenerative
Green Green List (high evidence)	ATP13A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Kufor-Rakeb syndrome, MIM# 606693 Tags neurological
Green Green List (high evidence)	ATP7B	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Wilson Disease (MONDO:0010200 MIM #277900) Tags treatable
Green Green List (high evidence)	BAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Tumor predisposition syndrome, MIM# 614327 Tags cancer
Green Green List (high evidence)	BGN	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meester-Loeys syndrome, MIM# 300989 Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106 Tags cardiac
Green Green List (high evidence)	BRCA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Breast-ovarian cancer, familial, 1, MIM# 604370 Tags
Green Green List (high evidence)	BRCA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Breast-ovarian cancer, familial, 2, MIM#612555 Tags cancer
Green Green List (high evidence)	C9orf72_FTDALS_GGGGCC STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green Green List (high evidence)	CACNA1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy congenital heart defects conduction abnormalities Timothy syndrome, MIM# 601005 Long QT syndrome 8, MIM# 618447 Tags cardiac review
Green Green List (high evidence)	CACNA1S	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Malignant hyperthermia susceptibility 5, MIM# 601887 Tags review
Green Green List (high evidence)	CASQ2	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 Tags cardiac
Green Green List (high evidence)	CDH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags cancer
Green Green List (high evidence)	CHCHD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Parkinson disease 22, autosomal dominant MIM#616710 Tags adult onset neurodegenerative
Green Green List (high evidence)	CHEK2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Li-Fraumeni syndrome 2 (MIM#609265) {Breast cancer, susceptibility to} (MIM#114480) {Colorectal cancer, susceptibility to} (MIM#114500) {Prostate cancer, familial, susceptibility to} (MIM#176807) Tags cancer
Green Green List (high evidence)	CHMP2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795 MONDO:0010936) Tags adult onset neurodegenerative
Green Green List (high evidence)	COL3A1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, vascular type, MIM# 130050 Polymicrogyria with or without vascular-type EDS, MIM# 618343 Tags cardiac
Green Green List (high evidence)	DDX41	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871 Tags cancer
Green Green List (high evidence)	DICER1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags cancer
Green Green List (high evidence)	DSC2	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 11, MIM# 610476 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 Tags cardiac
Green Green List (high evidence)	DSG2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 Cardiomyopathy, dilated, 1BB, MIM# 612877 Tags cardiac
Green Green List (high evidence)	DSP	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676 Epidermolysis bullosa, lethal acantholytic, MIM# 609638 Tags cardiac
Green Green List (high evidence)	FBN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Acromicric dysplasia (102370) Ectopia lentis, familial (129600) Geleophysic dysplasia 2 (614185) Marfan lipodystrophy syndrome (616914) Marfan syndrome (154700) MASS syndrome (604308) Stiff skin syndrome (184900) Weill-Marchesani syndrome 2, dominant (608328) Tags cardiac
Green Green List (high evidence)	FTL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 3, MIM# 606159 Tags neurological
Green Green List (high evidence)	FUS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030 Tags adult onset neurodegenerative
Green Green List (high evidence)	GBA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Parkinson's disease, MONDO:0005180, GBA-related Tags adult onset neurodegenerative new gene name
Green Green List (high evidence)	GLA	3 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fabry disease 301500 Fabry disease, cardiac variant 301500 Tags cardiac
Green Green List (high evidence)	GRN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Victorian Clinical Genetics Services Phenotypes frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 Tags adult onset neurodegenerative
Green Green List (high evidence)	HCN4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Victorian Clinical Genetics Services Phenotypes Sick sinus syndrome 2, MIM# 163800 Aortopathy Tags cardiac
Green Green List (high evidence)	HTT_HD_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Huntington disease MIM#143100 Tags
Green Green List (high evidence)	ITM2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Dementia, familial British MIM#176500 Dementia, familial Danish MIM#117300 Tags adult onset neurodegenerative
Green Green List (high evidence)	KCNE1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jervell and Lange-Nielsen syndrome 2, MIM# 612347 Long QT syndrome 5, MIM# 613695 Tags cardiac
Green Green List (high evidence)	KCNH2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 2, MIM# 613688 Short QT syndrome , MIM#1 609620 Tags cardiac
Green Green List (high evidence)	KCNQ1	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 1, MIM# 192500 Short QT syndrome 2, MIM# 609621 Jervell and Lange-Nielsen syndrome, MIM# 220400 Atrial fibrillation, familial, 3, MIM# 607554 Tags cardiac
Green Green List (high evidence)	LDLR	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Hypercholesterolemia, familial, 1, MIM# 143890 Tags cardiac
Green Green List (high evidence)	LMNA	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1A, MIM# 115200 Arrhythmogenic right ventricular cardiomyopathy Lipodystrophy, familial partial, type 2, MIM# 151660 Emery-Dreifuss muscular dystrophy 2, MIM#181350 Mandibuloacral dysplasia 248370 Restrictive dermopathy, lethal 275210 Hutchinson-Gilford progeria 176670 Muscular dystrophy, congenital 613205 Tags cardiac
Green Green List (high evidence)	LRRK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Parkinson Disease type 8 (MONDO:0005180, MIM#607060) Tags adult onset neurodegenerative
Green Green List (high evidence)	LZTR1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MAPT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Supranuclear palsy, progressive (MIM# 601104) AD Supranuclear palsy, progressive atypical (MIM# 260540) AR Tags adult onset neurodegenerative
Green Green List (high evidence)	MBD4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary neoplastic syndrome, MBD4-associated MONDO:0015356 Tags cancer
Green Green List (high evidence)	MEN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Multiple endocrine neoplasia 1, MIM# 131100 Tags cancer
Green Green List (high evidence)	MLH1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes mismatch repair cancer syndrome 1 MONDO:0010159 Tags cancer
Green Green List (high evidence)	MLH3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags cancer
Green Green List (high evidence)	MSH2	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MSH6	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MUTYH	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MYBPC3	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1MM, MIM#615396 Cardiomyopathy, hypertrophic, 4, MIM# 115197 Tags cardiac
Green Green List (high evidence)	MYH11	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Visceral myopathy 2, MIM# 619350 Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, MIM#619351 Aortic aneurysm, familial thoracic 4, MIM# 132900 Tags cardiac
Green Green List (high evidence)	MYH7	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1S, MIM# 613426 MONDO:0013262 Cardiomyopathy, hypertrophic, 1, MIM# 192600 Laing distal myopathy, MIM# 160500 Myopathy, myosin storage, autosomal dominant, MIM# 608358 Myopathy, myosin storage, autosomal recessive, MIM# 255160 Tags cardiac
Green Green List (high evidence)	MYL2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424 Cardiomyopathy, hypertrophic, 10, MIM# 608758 Tags cardiac
Green Green List (high evidence)	MYL3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 8, MIM# 608751 Tags cardiac
Green Green List (high evidence)	MYLK	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 7, MIM#613780 Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#249210 Tags cardiac
Green Green List (high evidence)	NF2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurofibromatosis, type 2, MIM# 101000 Tags SV/CNV
Green Green List (high evidence)	NOTCH3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 Tags
Green Green List (high evidence)	NPC1	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NPC2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NTHL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes NTHL1-associated cancer syndrome Tags
Green Green List (high evidence)	OPTN	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PALB2	1 review 1 green	Unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PANK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 1 (MIM#234200) Tags
Green Green List (high evidence)	PARK7	2 reviews 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PCSK9	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Familial Hypercholesterolemia 3 (MONDO:0011369 MIM# 603776) Low-density lipoprotein cholesterol level quantitative trait locus-1 (LDLCQ1 MIM# 603776) Tags treatable
Green Green List (high evidence)	PICALM	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PINK1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PKP2	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 Dilated cardiomyopathy, MONDO:0005021, PKP2-related Tags cardiac
Green Green List (high evidence)	PLA2G6	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PMS2	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hereditary neoplastic syndrome, MONDO:0015356, POT1-related Tags cancer
Green Green List (high evidence)	PRKAG2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic 6, MIM# 600858 Glycogen storage disease of heart, lethal congenital, MIM# 261740 Tags cardiac
Green Green List (high evidence)	PRKN	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PRNP	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PSEN1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PSEN2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PTEN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Cowden syndrome 1, MIM# 158350 Tags
Green Green List (high evidence)	RAD51D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes {Breast-ovarian cancer, familial, susceptibility to, 4} 614291 Tags
Green Green List (high evidence)	RB1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RET	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RYR2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772 Arrhythmogenic right ventricular dysplasia 2, MIM# 600996 Hypertrophic cardiomyopathy Tags cardiac
Green Green List (high evidence)	SCN1B	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SCN5A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 3 (MIM#603830) Sick sinus syndrome 1, MIM# 608567 Ventricular fibrillation, familial, 1, MIM# 603829 Brugada syndrome 1, MIM# 601144 Heart block, progressive, type IA, MIM# 113900 Cardiomyopathy, dilated, 1E, MIM# 601154 Tags cardiac
Green Green List (high evidence)	SDHAF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Paragangliomas 2, MIM# 601650 Tags
Green Green List (high evidence)	SDHB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Paragangliomas 4, MIM# 115310 Tags
Green Green List (high evidence)	SDHC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Paragangliomas 3, MIM# 605373 Tags
Green Green List (high evidence)	SDHD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Paragangliomas 1, with or without deafness, MIM# 168000 Pheochromocytoma, MIM# 171300 Tags
Green Green List (high evidence)	SETX	2 reviews 1 green 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SMAD3	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 3, MIM# 613795 Tags cardiac
Green Green List (high evidence)	SNCA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dementia, Lewy body (MIM#127750) Parkinson disease 1 (MIM#168601) Parkinson disease 4 (MIM#605543) Tags SV/CNV
Green Green List (high evidence)	SNCAIP	1 review 1 red	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SOD1	2 reviews 1 green 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SORL1	1 review 1 red	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SPART	1 review 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SPG11	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	STK11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Peutz-Jeghers syndrome, MIM# 175200 Tags
Green Green List (high evidence)	TARDBP	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TBK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (MIM#616439), AD Tags
Green Green List (high evidence)	TGFBR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 1, MIM# 609192 Tags cardiac
Green Green List (high evidence)	TGFBR2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 2 , MIM#610168 Tags cardiac
Green Green List (high evidence)	THSD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Aortic aneurysm, familial thoracic 12, MIM# 619825 Tags cardiac
Green Green List (high evidence)	TMEM43	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 Auditory neuropathy, autosomal dominant 3, MIM# 619832 Emery-Dreifuss muscular dystrophy 7 (MIM#614302) Tags cardiac
Green Green List (high evidence)	TNNI3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1FF, MIM#613286 Cardiomyopathy, hypertrophic, 7, MIM# 613690 Cardiomyopathy, familial restrictive, MIM#1115210 Tags cardiac
Green Green List (high evidence)	TNNT2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1D, MIM# 601494 Cardiomyopathy, hypertrophic, 2, MIM# 115195 Cardiomyopathy, familial restrictive, 3, MIM# 612422 Left ventricular noncompaction 6, MIM# 601494 Tags cardiac
Green Green List (high evidence)	TP53	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TPM1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1Y, MIM# 611878 Cardiomyopathy, hypertrophic, 3, MIM# 115196 Tags cardiac
Green Green List (high evidence)	TRIM28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Wilm's tumour Tags
Green Green List (high evidence)	TSC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Tuberous sclerosis-1, MIM# 191100 Tags
Green Green List (high evidence)	TSC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Tuberous sclerosis-2, MIM# 613254 Tags
Green Green List (high evidence)	TTN	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags cardiac
Green Green List (high evidence)	UBQLN2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MONDO: 0010459 MIM#300857) Tags
Green Green List (high evidence)	UCHL1	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 79A, autosomal dominant, MIM# 620221 Spastic paraplegia 79, autosomal recessive, MIM# 615491 MONDO:0014209 Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags for review
Green Green List (high evidence)	VAPB	2 reviews 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	VCP	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	VHL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes von Hippel-Lindau syndrome , MIM#193300 Tags
Green Green List (high evidence)	VPS13A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Choreoacanthocytosis MIM#200150 Tags
Green Green List (high evidence)	WT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Denys-Drash syndrome, MIM# 194080 Frasier syndrome, MIM#136680 Wilms tumor, type 1, MIM#194070 Nephrotic syndrome, type 4, MIM#256370 Tags
Green Green List (high evidence)	XK	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	ANG	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis (MONDO: 0012753 MIM#611895) Tags neurological
Amber Amber List (moderate evidence)	CCNF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Tags
Amber Amber List (moderate evidence)	DNAJC7	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes amyotrophic lateral sclerosis Tags
Amber Amber List (moderate evidence)	GLT8D1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	KCNE2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Long QT syndrome 6, MIM# 613693 Tags cardiac
Amber Amber List (moderate evidence)	LGALSL	1 review	Unknown	Sources ClinGen Expert Review Amber Phenotypes Amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	PCDHA9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	RBM12	1 review	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	SS18L1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes amyotrophic lateral sclerosis (MONDO:0004976) Tags
Amber Amber List (moderate evidence)	TAF15	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes amyotrophic lateral sclerosis MONDO:0004976 frontotemporal dementia MONDO:0017276 Tags
Amber Amber List (moderate evidence)	TUBA4A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208 Tags
Amber Amber List (moderate evidence)	UBQLN4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	UQCRC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Parkinsonism with polyneuropathy, MIM# 619279 Tags
Amber Amber List (moderate evidence)	WNK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Serrated polyposis syndrome Tags
Red Red List (low evidence)	A2M	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Alzheimer disease, MONDO:0004975 Tags adult onset neurodegenerative
Red Red List (low evidence)	AKAP9	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Long QT syndrome 11, MIM# 611820 Tags disputed
Red Red List (low evidence)	ANK2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Long QT syndrome 4, MIM# 600919 Tags cardiac
Red Red List (low evidence)	CACNB2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brugada syndrome 4, MIM# 611876 Tags cardiac
Red Red List (low evidence)	CALHM1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CLU	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Alzheimer's Disease (MIM#104300) Tags
Red Red List (low evidence)	GPD1L	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brugada syndrome 2, MIM# 611777 Tags cardiac disputed
Red Red List (low evidence)	NR4A2	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RABL3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes pancreatic carcinoma Tags
Red Red List (low evidence)	RNASEL	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SCN3B	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SCN4B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Long QT syndrome 10, MIM# 611819 Tags cardiac disputed
Red Red List (low evidence)	SNCB	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Dementia, Lewy body, MIM#127750 Tags disputed
Red Red List (low evidence)	SNTA1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Long QT syndrome 12, MIM# 612955 Tags cardiac disputed
Red Red List (low evidence)	TMEM230	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Parkinson disease 21, MONDO:0005180 Tags
No list No list	C9orf72	2 reviews 1 green	Unknown	Sources Expert list Expert Review Removed Victorian Clinical Genetics Services Tags STR
No list No list	FIG4	3 reviews 1 green 1 red	Unknown	Sources Expert Review Removed Victorian Clinical Genetics Services Tags review
No list No list	HTT	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Huntington disease, MIM# 143100 Tags STR

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