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Incidentalome (Version 0.318)


Panel types: Victorian Clinical Genetics Services
Description
This panel was developed and is maintained by VCGS.
Panel Activity

23 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Sue White (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; Australian Genomics)

146 Entities

140 reviewed, 120 green

List Entity Reviews Mode of inheritance Details
146 Entitiess
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
CDH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • cancer
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 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 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 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 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 List (high evidence)
DICER1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • cancer
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 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 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 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 List (high evidence)
FTDALS
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 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 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 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
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 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 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 List (high evidence)
HD
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Huntington disease MIM#143100
Tags
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 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 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 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 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 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 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 List (high evidence)
LZTR1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 List (high evidence)
MLH3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • cancer
Green List (high evidence)
MSH2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MSH6
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MUTYH
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 List (high evidence)
NOTCH3
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NPC1
1 review
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NPC2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
OPTN
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PALB2
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PANK2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PARK7
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
PICALM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PINK1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
PLA2G6
1 review
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PMS2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
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 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 List (high evidence)
PRKN
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PRNP
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PSEN1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PSEN2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PTEN
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
RB1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
RET
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
SCN1B
1 review
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
SDHAF2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SDHB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SDHC
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SDHD
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (high evidence)
SNCAIP
1 review
1 red 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
SORL1
1 review
1 red 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SPART
1 review
1 red 		Unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
STK11
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TARDBP
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (high evidence)
TH
1 review
1 red 		Unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 List (high evidence)
TP53
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
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 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 List (high evidence)
TSC1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TSC2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
UBQLN2
1 review
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
VAPB
2 reviews
1 red 		Unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
VCP
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
VHL
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
VPS13A
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 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 List (moderate evidence)
A2M
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Alzheimer disease, MONDO:0004975
Tags
  • adult onset neurodegenerative
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 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 List (moderate evidence)
DNAJC7
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • amyotrophic lateral sclerosis
Tags
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 List (moderate evidence)
RBM12
1 review
 Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (moderate evidence)
WNK2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Serrated polyposis syndrome
Tags
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 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 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 List (low evidence)
CALHM1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
NR4A2
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
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 List (low evidence)
RNASEL
1 review
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
SCN3B
1 review
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
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 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 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
No list
C9orf72
2 reviews
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Tags
  • STR
No list
FIG4
3 reviews
1 green 1 red 		Unknown
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Tags
  • review
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

Downloads

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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