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  2. Additional findings_Adult

Additional findings_Adult (Version 0.169)

Level 2: Screening

Panel types: Melbourne Genomics, Australian Genomics, Royal Melbourne Hospital
Description
This panel was originally developed for the Melbourne Genomics Additional findings flagship.

The framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.

This has been updated with the 2022 ACMG V3.1 Secondary Findings list, PMID: 35802134.

This panel will be used for the Australian Genomics Acute Care additional findings study.
Panel Activity

3 reviewers

  • Chern Lim (Victorian Clinical Genetics Services)

  • Katrina Bell (Murdoch Children's Research Institute)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

80 Entities

72 reviewed, 77 green

List Entity Reviews Mode of inheritance Details
80 Entitiess
Green List (high evidence)
ACTC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1R, MIM# 613424
  • Cardiomyopathy, hypertrophic, 11, MIM# 612098
  • Left ventricular noncompaction 4, MIM# 613424
Tags
Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Tags
Green List (high evidence)
APC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Adenomatous polyposis coli, MIM# 175100
Tags
Green List (high evidence)
APOB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Hypercholesterolemia, familial, 2, MIM# 144010
Tags
  • treatable
Green List (high evidence)
ATP7B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Wilson disease, MIM# 277900
Tags
Green List (high evidence)
BAG3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1HH, MIM# 613881
  • Myopathy, myofibrillar, 6, MIM# 612954
Tags
Green List (high evidence)
BMPR1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Polyposis, juvenile intestinal, MIM# 174900
Tags
Green List (high evidence)
BRCA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
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
Phenotypes
  • Breast-ovarian cancer, familial, 2, MIM#612555
Tags
Green List (high evidence)
BTD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Biotinidase deficiency, MIM# 253260
Tags
Green List (high evidence)
CACNA1S
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Malignant hyperthermia susceptibility 5, MIM# 601887
Tags
Green List (high evidence)
CASQ2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Tags
Green List (high evidence)
COL3A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Ehlers-Danlos syndrome, vascular type, MIM# 130050
Tags
Green List (high evidence)
DES
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1I, MIM# 604765
  • Myopathy, myofibrillar, 1 , MIM#601419
Tags
Green List (high evidence)
DSC2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
Tags
Green List (high evidence)
DSG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Tags
Green List (high evidence)
DSP
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821
Tags
Green List (high evidence)
ENG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Tags
Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Marfan syndrome, MIM# 154700
Tags
Green List (high evidence)
FLNC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26, MIM# 617047
Tags
Green List (high evidence)
GAA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Glycogen storage disease II 232300
  • Pompe disease
Tags
Green List (high evidence)
GLA
1 review
1 green 		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
  • Melbourne Genomics Health Alliance
Phenotypes
  • Fabry disease, MIM# 301500
Tags
Green List (high evidence)
HFE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Haemochromatosis, MIM# 235200
Tags
Green List (high evidence)
HNF1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • MODY, type III , MIM#600496
Tags
Green List (high evidence)
KCNH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Long QT syndrome 2, MIM# 613688
Tags
Green List (high evidence)
KCNQ1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Long QT syndrome 1, MIM# 192500
Tags
Green List (high evidence)
LDLR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Hypercholesterolemia, familial, 1, MIM# 143890
Tags
Green List (high evidence)
LMNA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1A, MIM# 115200
Tags
Green List (high evidence)
MAX
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Pheochromocytoma, susceptibility to} 171300
Tags
Green List (high evidence)
MEN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Multiple endocrine neoplasia 1, MIM# 131100
Tags
Green List (high evidence)
MLH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310
Tags
Green List (high evidence)
MSH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435
Tags
Green List (high evidence)
MSH6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350
Tags
Green List (high evidence)
MUTYH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Adenomas, multiple colorectal, MIM# 608456
Tags
Green List (high evidence)
MYBPC3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1MM, MIM# 615396
  • Cardiomyopathy, hypertrophic, 4, MIM# 115197
  • Left ventricular noncompaction 10, MIM# 615396
Tags
Green List (high evidence)
MYH11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Aortic aneurysm, familial thoracic 4, MIM# 132900
Tags
Green List (high evidence)
MYH7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1S, MIM# 613426
  • Cardiomyopathy, hypertrophic, 1, MIM# 192600
Tags
Green List (high evidence)
MYL2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, hypertrophic, 10, MIM# 608758
Tags
Green List (high evidence)
MYL3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, hypertrophic, 8, MIM# 608751
Tags
Green List (high evidence)
NF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Neurofibromatosis, type 2, MIM# 101000
Tags
Green List (high evidence)
OTC
1 review
1 green 		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
  • Melbourne Genomics Health Alliance
Phenotypes
  • Ornithine transcarbamylase deficiency, MIM# 311250
Tags
Green List (high evidence)
PALB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Breast cancer, susceptibility to} 114480
Tags
Green List (high evidence)
PCSK9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Hypercholesterolemia, familial, 3, MIM# 603776
Tags
Green List (high evidence)
PKP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Tags
Green List (high evidence)
PMS2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337
Tags
Green List (high evidence)
PRKAG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, hypertrophic 6, MIM# 600858
Tags
Green List (high evidence)
PTEN
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cowden syndrome 1, MIM# 158350
  • PTEN hamartoma tumour syndrome (MONDO#0017623)
Tags
Green List (high evidence)
RB1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Retinoblastoma MONDO:0008380
Tags
Green List (high evidence)
RBM20
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1DD MIM#613172 AD
Tags
Green List (high evidence)
RET
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Multiple endocrine neoplasia IIA, MIM# 171400
  • Multiple endocrine neoplasia IIB, MIM# 162300
Tags
Green List (high evidence)
RPE65
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • RPE-related retinopathy
Tags
Green List (high evidence)
RYR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • {Malignant hyperthermia susceptibility 1}, MIM#145600
Tags
Green List (high evidence)
RYR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2 , MIM#600996
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772
Tags
Green List (high evidence)
SCN5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Atrial fibrillation, familial, 10, MIM# 614022
  • Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900
  • Heart block, progressive, type IA, MIM# 113900
  • Long QT syndrome 3, MIM# 603830
Tags
Green List (high evidence)
SDHAF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Paragangliomas 2, MIM# 601650
Tags
Green List (high evidence)
SDHB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Paragangliomas 4, MIM# 115310
Tags
Green List (high evidence)
SDHC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Paragangliomas 3, MIM# 605373
Tags
Green List (high evidence)
SDHD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Paragangliomas 1, with or without deafness, MIM# 168000
  • Pheochromocytoma, MIM# 171300
Tags
Green List (high evidence)
SMAD3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Loeys-Dietz syndrome 3, MIM# 613795
Tags
Green List (high evidence)
SMAD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • vJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050
Tags
Green List (high evidence)
STK11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Peutz-Jeghers syndrome, MIM# 175200
Tags
Green List (high evidence)
TGFBR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Loeys-Dietz syndrome 1, MIM# 609192
Tags
Green List (high evidence)
TGFBR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Loeys-Dietz syndrome 2, MIM# 610168
Tags
Green List (high evidence)
TMEM127
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Pheochromocytoma, susceptibility to} 171300
Tags
Green List (high evidence)
TMEM43
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5, MIM# 604400
Tags
Green List (high evidence)
TNNC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1Z, MIM# 611879
Tags
Green List (high evidence)
TNNI3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1FF, MIM# 613286
  • Cardiomyopathy, familial restrictive, MIM#1 115210
  • Cardiomyopathy, hypertrophic, 7 , MIM#613690
Tags
Green List (high evidence)
TNNT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1D, MIM# 601494
  • Cardiomyopathy, familial restrictive, 3, MIM# 612422
  • Cardiomyopathy, hypertrophic, 2, MIM# 115195
  • Left ventricular noncompaction 6, MIM# 601494
Tags
Green List (high evidence)
TP53
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Li-Fraumeni syndrome, MIM# 151623
Tags
Green List (high evidence)
TPM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1Y, MIM# 611878
  • Cardiomyopathy, hypertrophic, 3, MIM# 115196
  • Left ventricular noncompaction 9, MIM# 611878
Tags
Green List (high evidence)
TRDN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
Tags
Green List (high evidence)
TSC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Tuberous sclerosis-1, MIM# 191100
Tags
Green List (high evidence)
TSC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Tuberous sclerosis-2, MIM# 613254
Tags
Green List (high evidence)
TTN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1G, MIM# 604145
Tags
Green List (high evidence)
TTR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hereditary transthyretin-related amyloidosis MIM#105210
Tags
Green List (high evidence)
VHL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • von Hippel-Lindau syndrome , MIM#193300
Tags
Green List (high evidence)
WT1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Wilms' tumor MIM#194070
Tags
Red List (low evidence)
ACTA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance
Phenotypes
  • Aortic aneurysm, familial thoracic 6, MIM# 611788
Tags
Red List (low evidence)
Katrina
1 review
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Other
Tags
Red List (low evidence)
KCNA6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Tags

Downloads

Download lists

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

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