PanelApp
  1. Panels
  2. Additional findings_Adult
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 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.

V1.0 was used for the Australian Genomics Acute Care additional findings study.

The panel has been updated with ClinGen Adult Actionability assertions.
Panel Activity

2 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

136 Entities

129 reviewed, 136 green

List Entity Reviews Mode of inheritance Details
136 Entitiess
Green Green List (high evidence)
ABCD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adrenoleukodystrophy, MIM#300100
Tags
Green Green List (high evidence)
ACADM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Tags
Green Green List (high evidence)
ACTA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Aortic aneurysm, familial thoracic 6, MIM# 611788
Tags
Green 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 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 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 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 Green List (high evidence)
ASS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Citrullinaemia MIM#215700
Tags
Green 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 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 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 Green List (high evidence)
BRCA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Breast-ovarian cancer, familial, 1, MIM# 604370
  • Fanconi anaemia, complementation group S, MIM# 617883
Tags
Green Green List (high evidence)
BRCA2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Breast-ovarian cancer, familial, 2, MIM#612555
  • Fanconi anaemia, complementation group D1, MIM# 605724
Tags
Green Green List (high evidence)
BRIP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group J, MIM# 609054
Tags
Green 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 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 Green List (high evidence)
CALM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 614916
  • Long QT syndrome 14, MIM# 616247
Tags
Green Green List (high evidence)
CALM2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990
  • Long QT syndrome 15 616249
Tags
Green Green List (high evidence)
CALM3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic 6, MIM# 618782
  • Long QT syndrome 16, MIM# 618782
Tags
Green 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 Green List (high evidence)
CBS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200
Tags
Green Green List (high evidence)
CDC73
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperparathyroidism-jaw tumour syndrome, MIM# 145001
  • Hyperparathyroidism, familial primary, MIM# 145000
Tags
Green Green List (high evidence)
CDH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Diffuse gastric cancer, MONDO:0957519
  • CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488
Tags
Green Green List (high evidence)
CDKN1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Tags
Green Green List (high evidence)
CDKN2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Melanoma-pancreatic cancer syndrome} MIM#606719
Tags
Green 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 Green List (high evidence)
COL4A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Alport syndrome 2, autosomal recessive, MIM# 203780
Tags
Green Green List (high evidence)
COL4A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alport syndrome 2, autosomal recessive, MIM#203780
Tags
Green Green List (high evidence)
COL4A5
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 list
  • Expert Review Green
Phenotypes
  • Alport syndrome 1, X-linked, MIM# 301050
Tags
Green Green List (high evidence)
CP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aceruloplasminaemia, MIM#604290
Tags
Green Green List (high evidence)
CPS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Carbamoylphosphate synthetase I deficiency MIM#237300
Tags
Green Green List (high evidence)
CPT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • CPT II deficiency, myopathic, stress-induced, MIM# 255110
Tags
Green 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 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 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 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 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 Green List (high evidence)
EPCAM
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch syndrome 8, MONDO:0013196
Tags
  • SV/CNV
Green Green List (high evidence)
ERCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group Q, MIM# 615272
Tags
Green Green List (high evidence)
F5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Factor V deficiency, MIM# 227400
Tags
Green Green List (high evidence)
F7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Factor VII deficiency, MIM# 227500
Tags
Green Green List (high evidence)
FANCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group A, MIM# 227650
Tags
Green Green List (high evidence)
FANCB
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group B, MIM# 300514
Tags
Green Green List (high evidence)
FANCC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group C, MIM# 227645
Tags
Green Green List (high evidence)
FANCD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group D2, MIM# 227646
Tags
Green Green List (high evidence)
FANCE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group E, MIM# 600901
Tags
Green Green List (high evidence)
FANCF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group F 603467
Tags
Green Green List (high evidence)
FANCG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group G, MIM# 614082
Tags
Green Green List (high evidence)
FANCI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group I, MIM# 609053
Tags
Green Green List (high evidence)
FANCL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group L, MIM# 614083
Tags
Green 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 Green List (high evidence)
FH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
Tags
Green Green List (high evidence)
FLCN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Birt-Hogg-Dube syndrome (MIM#135150)
Tags
Green 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 Green List (high evidence)
G6PD
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Tags
Green 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 Green List (high evidence)
GBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Gaucher disease, type I MIM#230900
Tags
Green 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 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 Green List (high evidence)
HMBS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Porphyria, acute intermittent, MIM#176000
Tags
Green 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 Green List (high evidence)
HNF1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Renal cysts and diabetes syndrome, MIM# 137920
Tags
  • SV/CNV
Green Green List (high evidence)
HNF4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • MODY, type I, OMIM # 125850
Tags
Green Green List (high evidence)
ITGA2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Glanzmann thrombasthaenia 1, MIM# 273800
Tags
Green Green List (high evidence)
ITGB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bleeding disorder, platelet-type, 24, MIM#619271
Tags
Green Green List (high evidence)
JUP
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12 MIM# 611528
  • Naxos disease MIM# 601214
Tags
Green 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 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 Green List (high evidence)
LAMP2
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 list
  • Expert Review Green
Phenotypes
  • Danon disease, MIM#300257
Tags
Green 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 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 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 Green List (high evidence)
MEFV
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Familial Mediterranean fever MIM#134610
  • Familial Mediterranean fever MIM#249100
Tags
Green 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)
NAGS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • N-acetylglutamate synthase deficiency - MIM#237310
Tags
Green 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 Green List (high evidence)
OAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Tags
Green 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 Green List (high evidence)
PALB2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Breast cancer, susceptibility to} 114480
  • Fanconi anaemia, complementation group N, MIM# 610832
Tags
Green 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 Green List (high evidence)
PHYH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Refsum disease, MIM# 266500
Tags
Green Green List (high evidence)
PIK3R1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • SHORT syndrome, MIM# 269880
Tags
Green 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 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 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 Green List (high evidence)
PRKAR1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Carney complex, type 1, MIM# 160980
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
Phenotypes
  • Cowden syndrome 1, MIM# 158350
  • PTEN hamartoma tumour syndrome (MONDO#0017623)
Tags
Green Green List (high evidence)
PYGM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • McArdle disease, MIM# 232600
Tags
Green Green List (high evidence)
RAD51C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group O, MIM# 613390
Tags
Green 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 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 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 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 Green List (high evidence)
RUNX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Tags
Green 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 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 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 Green List (high evidence)
SDHA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Paragangliomas 5 , MIM#614165
Tags
Green 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 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 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 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 Green List (high evidence)
SERPINA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • alpha 1-antitrypsin deficiency, MONDO#0013282
Tags
Green Green List (high evidence)
SLC22A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Carnitine deficiency, systemic primary, MIM# 212140
Tags
Green Green List (high evidence)
SLC25A13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Citrullinaemia, adult-onset type II, MIM# 603471
Tags
Green Green List (high evidence)
SLC25A15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970
Tags
Green Green List (high evidence)
SLX4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group P, MIM# 613951
Tags
Green 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 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 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 Green List (high evidence)
TECRL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Tags
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

Major version comments

Downloads

Download lists

Download Version