Transplant Co-Morbidity Superpanel (Version 0.18)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 278 Entitiess
Green Green List (high evidence)	ABCA1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HDL deficiency, familial, 1, MIM# 604091 Tangier disease, MIM# 205400 Tags
Green Green List (high evidence)	ABCC8	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, permanent neonatal, 6 Hyperinsulinemic hypoglycemia, familial, 1, 256450 DIABETES MELLITUS, NONINSULIN-DEPENDENT transient neonatal diabetes (Dominant) Transient Neonatal Diabetes, Dominant Diabetes mellitus, transient neonatal 2, 610374 Permanent Neonatal Diabetes Mellitus Hypoglycemia of infancy, leucine-sensitive, 240800 Permanent Neonatal Diabetes Mellitus (recessive) Diabetes mellitus, noninsulin-dependent, 125853 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6 Tags
Green Green List (high evidence)	ABCG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Sitosterolaemia 2, MIM# 618666 Tags
Green Green List (high evidence)	ABCG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sitosterolemia 1, MIM# 210250 Tags
Green Green List (high evidence)	ACTA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 6, MIM# 611788 Tags
Green Green List (high evidence)	ACTB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Syndromic thrombocytopaenia Tags
Green Green List (high evidence)	ACTC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1R, MIM# 613424 Cardiomyopathy, hypertrophic, 11, MIM# 612098 Left ventricular noncompaction 4, MIM# 613424 Tags
Green Green List (high evidence)	ACTN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 15, MIM# 615193 Tags
Green Green List (high evidence)	ACVRL1	0 reviews	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)	ADAMTS13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150 Tags
Green Green List (high evidence)	AKT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, type II, 125853 Severe insulin resistance, partial lipodystrophy and diabetes Tags
Green Green List (high evidence)	ALMS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alstrom syndrome Tags
Green Green List (high evidence)	ALPK3	0 reviews	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 Cardiomyopathy, familial hypertrophic 27, MIM#618052 Tags
Green Green List (high evidence)	ALPL	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes disorder of bone metabolism Hypophosphatasia Tags
Green Green List (high evidence)	ANKRD26	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocytopaenia 2, MIM# 188000 Tags
Green Green List (high evidence)	ANO5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Gnathodiaphyseal dysplasia MIM#166260 Tags
Green Green List (high evidence)	ANO6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0009885 Scott syndrome, MIM# 262890 Tags
Green Green List (high evidence)	AP3B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags
Green Green List (high evidence)	APC	0 reviews	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)	APOA1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836 Tags
Green Green List (high evidence)	APOA5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperchylomicronemia Tags
Green Green List (high evidence)	APOB	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypobetalipoproteinemia, Hypercholesterolemia Tags
Green Green List (high evidence)	APOC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperlipoproteinemia, type Ib MIM#207750 Tags
Green Green List (high evidence)	APOE	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy Tags
Green Green List (high evidence)	ARPC1B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718 Tags
Green Green List (high evidence)	ATP7B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Wilson disease, MIM# 277900 Tags
Green Green List (high evidence)	B3GALT6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075 Tags
Green Green List (high evidence)	B4GALT7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 Tags
Green Green List (high evidence)	BAG3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1HH, MIM# 613881 MONDO:0013479 Myopathy, myofibrillar, 6, MIM# 612954 Tags
Green Green List (high evidence)	BAG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2F, MIM# 619747 Tags
Green Green List (high evidence)	BAP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green SA Pathology Phenotypes Tumour predisposition syndrome, MIM#614327 Tags
Green Green List (high evidence)	BLOC1S3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 8, MIM# 614077 MONDO:0013560 Tags
Green Green List (high evidence)	BLOC1S5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hermansky Pudlak syndrome type 11, MIM#619172 Tags
Green Green List (high evidence)	BLOC1S6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hermansky-pudlak syndrome 9, MIM# 614171 Tags
Green Green List (high evidence)	BMP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XIII , MIM#614856 Tags
Green Green List (high evidence)	BMPR1A	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Breast-ovarian cancer, familial, 1, MIM# 604370 Tags
Green Green List (high evidence)	BRCA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Breast-ovarian cancer, familial, 2, MIM#612555 Tags
Green Green List (high evidence)	C1QBP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 33, MIM#617713 Tags
Green Green List (high evidence)	CACNA1C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 8, MIM# 618447 Timothy syndrome, MIM# 601005 Tags
Green Green List (high evidence)	CACNA1S	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 14 616247 Ventricular tachycardia, catecholaminergic polymorphic, 4 614916 Tags
Green Green List (high evidence)	CALM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 15 616249 idopathic VF sudden unexplained death Tags
Green Green List (high evidence)	CALM3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Long QT syndrome 16, MIM# 618782 Tags
Green Green List (high evidence)	CASQ2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 Tags
Green Green List (high evidence)	CASR	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes severe hypercalcemia, bone demineralization, multiple fractures Hyperparathyroidism, neonatal, MIM# 239200 Tags
Green Green List (high evidence)	CCDC134	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta, type XXII, MIM#619795 Tags
Green Green List (high evidence)	CDC42	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Takenouchi-Kosaki syndrome, MIM#616737 Tags
Green Green List (high evidence)	CDK4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green SA Pathology Phenotypes Melanoma, cutaneous malignant, MIM#609408 Tags
Green Green List (high evidence)	CDKN2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green SA Pathology Tags
Green Green List (high evidence)	CHST14	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 Tags
Green Green List (high evidence)	COL1A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta Tags
Green Green List (high evidence)	COL1A2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120 Tags
Green Green List (high evidence)	COL3A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, vascular type, MIM# 130050 Tags
Green Green List (high evidence)	COPB2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884 Tags
Green Green List (high evidence)	CREB3L1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XVI, 616229 Tags
Green Green List (high evidence)	CRTAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type VII MIM#610682 Tags
Green Green List (high evidence)	CSRP3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 12, MIM# 612124 Tags
Green Green List (high evidence)	CYCS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia 4, MIM# 612004 Tags
Green Green List (high evidence)	CYP27A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis MIM#213700 Tags
Green Green List (high evidence)	CYP2C19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes DRUG METABOLISM, POOR, CYP2C19-RELATED, MEPHENYTOIN, POOR METABOLISM OF, INCLUDED OMEPRAZOLE, POOR METABOLISM OF, INCLUDED PROGUANIL, POOR METABOLISM OF, INCLUDED CLOPIDOGREL, POOR METABOLISM OF, INCLUDED MIM#609535 Tags
Green Green List (high evidence)	CYP2C9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Tolbutamide poor metabolizer, Warfarin sensitivity MIM# 122700 Tags
Green Green List (high evidence)	CYP3A5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hypertension, salt-sensitive essential, susceptibility to MIM#145500 Tags
Green Green List (high evidence)	CYP4F2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Warfarin dosage sensitivity MIM# 122700 Tags
Green Green List (high evidence)	DES	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy, dilated, 1I, MIM# 604765 Myopathy, myofibrillar, 1 , MIM#601419 Tags
Green Green List (high evidence)	DIAPH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 Tags
Green Green List (high evidence)	DMD	0 reviews	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 Cardiomyopathy, dilated, 3B (MIM#302045) Tags
Green Green List (high evidence)	DPYD	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dihydropyrimidine dehydrogenase deficiency MIM#274270 5-fluorouracil toxicity MIM#274270 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	DSC2	0 reviews	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 Arrhythmogenic right ventricular dysplasia 11, MIM# 610476 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 Tags
Green Green List (high evidence)	DSG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 Tags
Green Green List (high evidence)	DSP	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676 Tags
Green Green List (high evidence)	DTNBP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0013559 Hermansky-Pudlak syndrome 7, MIM# 614076 Tags
Green Green List (high evidence)	EIF2B1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Tags
Green Green List (high evidence)	ENG	0 reviews	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)	ETV6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocytopaenia 5, MIM# 616216 Tags
Green Green List (high evidence)	F10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor X deficiency, MIM# 227600 MONDO:0009212 Tags
Green Green List (high evidence)	F11	0 reviews	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 Factor XI deficiency, autosomal dominant 612416 Factor XI deficiency, autosomal recessive, MIM#612416 Tags
Green Green List (high evidence)	F13A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor XIIIA deficiency, MIM# 613225 MONDO:0013187 Tags
Green Green List (high evidence)	F13B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor XIIIB deficiency, MIM#613235 Tags
Green Green List (high evidence)	F2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD Dysprothrombinemia 613679 AR Hypoprothrombinemia 613679 AR Thrombophilia due to thrombin defect 188050 AD {Stroke, ischemic, susceptibility to} 601367 Mu Tags
Green Green List (high evidence)	F5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0009210 Factor V deficiency, MIM# 227400 {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055 MONDO:0008560 Thrombophilia due to activated protein C resistance, MIM# 188055 Tags
Green Green List (high evidence)	F7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0009211 Factor VII deficiency, MIM# 227500 Tags
Green Green List (high evidence)	F8	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071 MONDO:0010602 Haemophilia A, MIM# 306700 Tags
Green Green List (high evidence)	F9	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophilia B, MIM# 306900 Thrombophilia, X-linked, due to factor IX defect, MIM# 300807 MONDO:0010432 MONDO:0010604 Tags
Green Green List (high evidence)	FAM46A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green, Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XVIII, MIM# 617952 Tags
Green Green List (high evidence)	FBN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Marfan syndrome, MIM# 154700 Tags
Green Green List (high evidence)	FERMT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukocyte adhesion deficiency, type III, MIM# 612840 Tags
Green Green List (high evidence)	FGA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Afibrinogenemia, congenital (MIM#202400) Tags
Green Green List (high evidence)	FGB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Afibrinogenaemia, congenital, MIM# 202400 Hypofibrinogenaemia, congenital, MIM# 202400 Dysfibrinogenemia, congenital, MIM# 616004 Tags
Green Green List (high evidence)	FGG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Afibrinogenaemia, congenital, MIM# 202400 Hypofibrinogenaemia, congenital, MIM# 202400 Dysfibrinogenemia, congenital, MIM# 616004 Tags
Green Green List (high evidence)	FHL1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696 Tags
Green Green List (high evidence)	FHOD3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 Tags
Green Green List (high evidence)	FKBP10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XI, 610968 Tags
Green Green List (high evidence)	FKRP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 Tags
Green Green List (high evidence)	FLI1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 21, MIM# 617443 Tags
Green Green List (high evidence)	FLNA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrothrombocytopaenia Tags
Green Green List (high evidence)	FLNC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Cardiomyopathy, familial hypertrophic, 26 Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy Tags
Green Green List (high evidence)	G6PD	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 Phenotypes Haemolytic anaemia Tags
Green Green List (high evidence)	GATA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367 Tags
Green Green List (high evidence)	GATA4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS UKGTN Tags
Green Green List (high evidence)	GATA6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pancreatic agenesis and congenital heart defects, 600001 Persistent truncus arteriosus, 217095 Tetralogy of Fallot, 187500 Atrial septal defect 9, 614475 Atrioventricular septal defect 5, 614474 Tags
Green Green List (high evidence)	GBA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Gaucher disease Tags
Green Green List (high evidence)	GCK	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485) MODY, type II, AD (MIM#125851) Diabetes mellitus, permanent neonatal 1, AR (MIM#606176) Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853) Tags
Green Green List (high evidence)	GFI1B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bleeding disorder, platelet-type, 17 MIM#187900 Tags
Green Green List (high evidence)	GGCX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450 Tags
Green Green List (high evidence)	GLA	0 reviews	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 (MIM# 301500) Tags
Green Green List (high evidence)	GNE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopaenia Myopathy Tags
Green Green List (high evidence)	GORAB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Geroderma osteodysplasticum, MIM# 231070 Tags
Green Green List (high evidence)	GP1BA	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0007930 MONDO:0008332 Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS) von Willebrand disease, platelet-type, (MIM#177820), AD (VWD) Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS) Tags
Green Green List (high evidence)	GP1BB	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrothrombocytopaenia Bernard-Soulier syndrome, type B, MIM# 231200 Tags
Green Green List (high evidence)	GP6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 11, MIM# 614201 MONDO:0013623 Tags
Green Green List (high evidence)	GP9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bernard-Soulier syndrome, type C, MIM# 231200 Tags
Green Green List (high evidence)	GPIHBP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Hyperlipoproteinemia, type ID Tags
Green Green List (high evidence)	HCN4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sick sinus syndrome 2, MIM# 163800 Tags
Green Green List (high evidence)	HFE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Haemochromatosis, MIM# 235200 Tags
Green Green List (high evidence)	HNF1A	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Transient neonatal diabetes RCAD RENAL CYSTS AND DIABETES SYNDROME Maturity-Onset Diabetes Of The Young renal malformation {Renal cell carcinoma}, 144700 Renal cysts and diabetes syndrome, 137920 Diabetes mellitus, noninsulin-dependent, 125853 Renal Cysts and Diabetes Syndrome Tags
Green Green List (high evidence)	HNF4A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026 MODY1, 125850 {Diabetes mellitus, noninsulin-dependent}, 125853 Maturity-Onset Diabetes Of The Young, Type 1 Tags
Green Green List (high evidence)	HPS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0008748 Hermansky-Pudlak syndrome 1, MIM# 203300 Tags
Green Green List (high evidence)	HPS3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 3, MIM# 614072 MONDO:0013555 Tags
Green Green List (high evidence)	HPS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 MONDO:0013556 Tags
Green Green List (high evidence)	HPS5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 5 (MIM#614074) Tags
Green Green List (high evidence)	HPS6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 6, MIM# 614075 MONDO:0013558 Tags
Green Green List (high evidence)	HRG	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Thrombophilia 11 due to HRG deficiency, MIM# 613116 Tags
Green Green List (high evidence)	IFITM5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta type V, MIM#610967 Tags
Green Green List (high evidence)	IKZF5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Thrombocytopaenia 7, MIM#619130 Tags
Green Green List (high evidence)	INS	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Maturity Onset Diabetes of the Young (Dominant) Diabetes mellitus, type 1, 125852 Diabetes mellitus, insulin-dependent, 2, 125852 Transient Neonatal Diabetes, Dominant/Recessive MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 Maturity-onset diabetes of the young, type 10, 613370 Diabetes mellitus, permanent neonatal, 606176 Hyperproinsulinemia, familial, with or without diabetes Permanent Neonatal diabetes mellitus Maturity Onset Diabetes of the Young MODY10 Tags
Green Green List (high evidence)	INSR	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans OMIM 610549 Rabson-Mendenhall syndrome, 262190 Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 Diabetes mellitus, insulin-resistant, with acanthosis nigricans Hyperinsulinemic hypoglycemia, familial, 5, 609968 Leprechaunism, 246200 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS Tags
Green Green List (high evidence)	ITGA2B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glanzmann thrombasthaenia 1, MIM# 273800 MONDO:000855 Bleeding disorder, platelet-type, 16, MIM# 187800 Tags
Green Green List (high evidence)	ITGB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 24, MIM#619271 MONDO:0008552 Tags
Green Green List (high evidence)	JUP	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214 Tags
Green Green List (high evidence)	KCNH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 2, MIM# 613688 Short QT syndrome Tags
Green Green List (high evidence)	KCNJ11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, trans Maturity Onset Diabetes of the Young (Dominant) Diabetes Mellitus, Permanent Neonatal Transient Neonatal diabetes mellitus (Dominant) {Diabetes mellitus, type 2, susceptibility to}, 125853 Transient Neonatal Diabetes, Dominant Diabetes mellitus, permanent neonatal, with neurologic features, 606176 Diabetes, permanent neonatal, 606176 Diabetes mellitus, transient neonatal, 3, 610582 Diabetes Mellitus, Transient Neonatal, 3 Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive) Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582 Maturity Onset Diabetes of the Young Transient Neonatal, 3 Hyperinsulinemic hypoglycemia, familial, 2, 601820 Tags
Green Green List (high evidence)	KCNJ2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short QT syndrome long QT syndrome Andersen-Tawil syndrome Tags
Green Green List (high evidence)	KCNQ1	0 reviews	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 Jervell and Lange-Nielsen syndrome 220400 Long QT syndrome 1, MIM# 192500 Long QT syndrome 1, 192500 Atrial fibrillation, familial, 3 607554 Short QT syndrome 2 609621 Tags
Green Green List (high evidence)	KDELR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Increased susceptibility to fractures Bowing of the legs Osteogenesis imperfecta 21, MIM# 619131 joint hypermobility Bowing of the arms Scoliosis Tags
Green Green List (high evidence)	KDSR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Erythrokeratodermia variabilis et progressiva 4, MIM# 617526 severe thrombocytopaenia Tags
Green Green List (high evidence)	KLHL24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236 Tags
Green Green List (high evidence)	LAMP2	0 reviews	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 Danon disease, MIM#300257 Tags
Green Green List (high evidence)	LCAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Disorders of high density lipoprotein metabolism Norum disease MIM#245900 Fish-eye disease MIM#136120 Tags
Green Green List (high evidence)	LDLR	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypercholesterolemia, familial, 1, MIM# 143890 Tags
Green Green List (high evidence)	LDLRAP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypercholesterolemia, familial, 4, MIM# 603813 Tags
Green Green List (high evidence)	LIPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wolman disease, Cholesterol ester storage disease Tags
Green Green List (high evidence)	LIPC	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Inherited mixed hyperlipidaemias Hepatic lipase deficiency MIM#614025 hyperalphalipoproteinemia Tags
Green Green List (high evidence)	LMAN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0009206 Combined factor V and VIII deficiency, MIM# 227300 Tags
Green Green List (high evidence)	LMF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Combined lipase deficiency Tags
Green Green List (high evidence)	LMNA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1A, MIM# 115200 Tags
Green Green List (high evidence)	LOX	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 10, MIM# 617168 Tags
Green Green List (high evidence)	LPL	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial Tags
Green Green List (high evidence)	LRP5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal dominant 1, MIM# 607634 Tags
Green Green List (high evidence)	LYST	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Chediak-Higashi syndrome, MIM# 214500 Tags
Green Green List (high evidence)	MAX	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Pheochromocytoma, susceptibility to} 171300 Tags
Green Green List (high evidence)	MCFD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor V and factor VIII, combined deficiency of, MIM# 613625 MONDO:0013331 Tags
Green Green List (high evidence)	MECOM	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738 Tags
Green Green List (high evidence)	MED12	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, MIM# 309520 Tags
Green Green List (high evidence)	MEN1	0 reviews	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)	MESD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Osteogenesis imperfecta, type XX, MIM# 618644 Tags
Green Green List (high evidence)	MLH1	0 reviews	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)	MPI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes MPI-CDG MONDO:0011257 Congenital disorder of glycosylation, type Ib, MIM# 602579 Tags
Green Green List (high evidence)	MPIG6B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441 Tags
Green Green List (high evidence)	MPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia, congenital amegakaryocytic, MIM# 604498 Tags
Green Green List (high evidence)	MSH2	0 reviews	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	0 reviews	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)	MT-RNR1	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Deafness, mitochondrial, modifier of MIM# 580000 Tags
Green Green List (high evidence)	MTTP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Inherited hypolipidaemias Abetalipoproteinemia MIM#200100 Tags
Green Green List (high evidence)	MYBPC3	0 reviews	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 Cardiomyopathy, dilated, 1MM, MIM# 615396 Left ventricular noncompaction 10, MIM# 615396 Cardiomyopathy, hypertrophic, 4, MIM# 115197 Tags
Green Green List (high evidence)	MYH11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 4, MIM# 132900 Tags
Green Green List (high evidence)	MYH7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0013262 Cardiomyopathy, dilated, 1S, MIM# 613426 Cardiomyopathy, hypertrophic, 1, MIM# 192600 Tags
Green Green List (high evidence)	MYH9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Tags
Green Green List (high evidence)	MYL2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 10, MIM# 608758 Tags
Green Green List (high evidence)	MYL3	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 8, MIM# 608751 Tags
Green Green List (high evidence)	MYLK	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 7, MIM# 613780 Tags
Green Green List (high evidence)	NBAS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800 immunodeficiency short stature bone fragility developmental delay autism Tags
Green Green List (high evidence)	NBEAL2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Gray platelet syndrome, MIM# 139090 Tags
Green Green List (high evidence)	NEUROD1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 Maturity-Onset Diabetes Of The Young Permanent neonatal diabetes and cerebellar agenesis MODY6 Maturity Onset Diabetes of the Young {Diabetes mellitus, noninsulin-dependent}, 125853 Maturity-onset diabetes of the young 6, 606394 Tags
Green Green List (high evidence)	NEXN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1CC, MIM# 613122 Tags
Green Green List (high evidence)	NF2	0 reviews	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)	NOTCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm Tags
Green Green List (high evidence)	NOTCH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hajdu-Cheney syndrome (MIM#102500) Tags
Green Green List (high evidence)	NUDT15	1 review 1 green	Other	Sources Expert list Expert Review Green Phenotypes Thiopurines, poor metabolism of, 2 MIM# 616903 Tags
Green Green List (high evidence)	P2RY12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0012354 Bleeding disorder, platelet-type, 8, MIM# 609821 Tags
Green Green List (high evidence)	P3H1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type VIII, (MIM# 610915) Tags
Green Green List (high evidence)	P4HB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 1, MIM#112240 Tags
Green Green List (high evidence)	PALB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Breast cancer, susceptibility to} 114480 Tags
Green Green List (high evidence)	PAX6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes diabetes Aniridia 106210 Tags
Green Green List (high evidence)	PCSK9	0 reviews	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)	PKP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 Tags
Green Green List (high evidence)	PLA2G4A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372 Tags
Green Green List (high evidence)	PLAU	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Quebec platelet disorder, MIM# 601709 Tags
Green Green List (high evidence)	PLN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 18 (MIM #613874) Cardiomyopathy, dilated, 1P, MIM# 609909 Tags
Green Green List (high evidence)	PLOD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bruck syndrome 2, MIM# 609220 Tags
Green Green List (high evidence)	PLS3	0 reviews	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 Bone mineral density QTL18, osteoporosis Tags
Green Green List (high evidence)	PMS2	0 reviews	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)	PPARG	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes FPLD3 Lipodystrophy, familial partial, type 3 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 Insulin resistance, severe, digenic Obesity, severe, 601665 Carotid intimal medial thickness 1, 609338 Lipodystrophy, familial partial, type 3, 604367 {Diabetes, type 2}, 125853 Lipodystrophy, familial partial, type 3 604367 [Obesity, resistance to] Insulin resistance, severe, digenic 604367 Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension Insulin resistance, severe, digenic, 604367 Tags
Green Green List (high evidence)	PPIB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type IX, MIM# 259440 Tags
Green Green List (high evidence)	PRDM16	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Left ventricular noncompaction 8 MIM#615373 Cardiomyopathy, dilated, 1LL MIM#615373 Tags
Green Green List (high evidence)	PRKAG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic 6, MIM# 600858 Tags
Green Green List (high evidence)	PRKG1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 8, MIM# 615436 Tags
Green Green List (high evidence)	PTCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green Phenotypes Holoprosencephaly 7, MIM# 610828 Tags
Green Green List (high evidence)	PTEN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Cowden syndrome 1, MIM# 158350 Tags
Green Green List (high evidence)	PTPN11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Noonan syndrome 1, MIM# 163950 Tags
Green Green List (high evidence)	RASGRP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bleeding disorder, platelet-type, 18, MIM# 615888 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 Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1DD MIM#613172 AD Tags
Green Green List (high evidence)	RBM8A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia-absent radius syndrome, MIM# 274000 Tags
Green Green List (high evidence)	RET	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Multiple endocrine neoplasia IIB, MIM# 162300 Multiple endocrine neoplasia IIA, MIM# 171400 Tags
Green Green List (high evidence)	RUNX1	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772 Arrhythmogenic right ventricular dysplasia 2 , MIM#600996 Tags
Green Green List (high evidence)	SCN5A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Heart block, nonprogressive Atrial fibrillation, familial, 10 Long QT syndrome 3 Ventricular fibrillation, familial, 1 Cardiomyopathy, dilated, 1E, MIM# 601154 Sick sinus syndrome 1 Heart block, progressive, type IA Brugada syndrome 1 {Sudden infant death syndrome, susceptibility to} Tags
Green Green List (high evidence)	SDHAF2	0 reviews	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	0 reviews	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	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Pheochromocytoma, MIM# 171300 Paragangliomas 1, with or without deafness, MIM# 168000 Tags
Green Green List (high evidence)	SEC24D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 2, MIM# 616294 Tags
Green Green List (high evidence)	SERPINE1	0 reviews	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 Plasminogen activator inhibitor-1 deficiency, MIM# 613329 Tags
Green Green List (high evidence)	SERPINF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type VI, MIM# 613982 Tags
Green Green List (high evidence)	SERPINF2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alpha-2-plasmin inhibitor deficiency, MIM# 262850 Tags
Green Green List (high evidence)	SERPINH1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta Tags
Green Green List (high evidence)	SGMS2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550 Tags
Green Green List (high evidence)	SKI	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shprintzen-Goldberg syndrome, MIM# 182212 Tags
Green Green List (high evidence)	SLC2A10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arterial tortuosity syndrome, MIM# 208050 Tags
Green Green List (high evidence)	SLC37A4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes liver dysfunction Congenital disorder of glycosylation coagulation deficiency Tags
Green Green List (high evidence)	SLC40A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Hemochromatosis, type 4 606069 Tags
Green Green List (high evidence)	SLCO1B1	1 review 1 green	Other	Sources Expert list Expert Review Green Phenotypes Hyperbilirubinemia, Rotor type, digenic MIM# 237450 Tags
Green Green List (high evidence)	SLFN14	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 20, MIM# 616913 Tags
Green Green List (high evidence)	SMAD3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 3, MIM# 613795 Tags
Green Green List (high evidence)	SMAD4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050 Thoracic aortic aneurysm Tags
Green Green List (high evidence)	SP7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta type 12, MONDO:0013460 Osteogenesis imperfecta, type XII, OMIM:613849 Tags
Green Green List (high evidence)	SPARC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XVII, MIM# 616507 Tags
Green Green List (high evidence)	SRC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocytopaenia 6, MIM# 616937 Tags
Green Green List (high evidence)	STIM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Stormorken syndrome, MIM# 185070 Tags
Green Green List (high evidence)	SUFU	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Phenotypes SUFU-related neurodevelopmental disorder Tags
Green Green List (high evidence)	TBX5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Holt-Oram syndrome, MIM# 142900 Dilated cardiomyopathy Tags
Green Green List (high evidence)	TBXAS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ghosal hematodiaphyseal syndrome, MIM# 231095 Tags
Green Green List (high evidence)	TECRL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021 Tags
Green Green List (high evidence)	TGFB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 4, MIM# 614816 Tags
Green Green List (high evidence)	TGFB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 5, MIM# 615582 Tags
Green Green List (high evidence)	TGFBR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 1, MIM# 609192 Tags
Green Green List (high evidence)	TGFBR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 2, MIM# 610168 Tags
Green Green List (high evidence)	THBD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder Tags
Green Green List (high evidence)	THPO	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocythemia 1, MIM# 187950 Tags
Green Green List (high evidence)	TMEM127	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Pheochromocytoma, susceptibility to} 171300 Tags
Green Green List (high evidence)	TMEM38B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XIV , MIM#615066 Tags
Green Green List (high evidence)	TMEM43	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services 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 Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0012745 Cardiomyopathy, dilated, 1Z, MIM# 611879 Tags
Green Green List (high evidence)	TNNI3	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1FF, MIM# 613286 Cardiomyopathy, hypertrophic, 7 , MIM#613690 Cardiomyopathy, familial restrictive, MIM#1 115210 Tags
Green Green List (high evidence)	TNNI3K	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117 Tags
Green Green List (high evidence)	TNNT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, familial restrictive, 3, MIM# 612422 Cardiomyopathy, dilated, 1D, MIM# 601494 Left ventricular noncompaction 6, MIM# 601494 Cardiomyopathy, hypertrophic, 2, MIM# 115195 Tags
Green Green List (high evidence)	TNXB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408 Tags
Green Green List (high evidence)	TP53	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Left ventricular noncompaction 9, MIM# 611878 Cardiomyopathy, hypertrophic, 3, MIM# 115196 Cardiomyopathy, dilated, 1Y, MIM# 611878 Tags
Green Green List (high evidence)	TPM4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 25, MIM# 620486 Tags
Green Green List (high evidence)	TPMT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thiopurines, poor metabolism of, 1 MIM# 610460 Tags
Green Green List (high evidence)	TRDN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Long QT syndrome Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441 Tags
Green Green List (high evidence)	TRIM63	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045 Tags
Green Green List (high evidence)	TRPV6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperparathyroidism, transient neonatal, MIM# 618188 Tags
Green Green List (high evidence)	TSC1	0 reviews	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	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1G, MIM#604145 Tags
Green Green List (high evidence)	TTR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyloidosis, hereditary, transthyretin-related MIM#105210 Tags
Green Green List (high evidence)	TUBB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112 Tags
Green Green List (high evidence)	TULP3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hepatorenocardiac degenerative fibrosis, MIM# 619902 Tags
Green Green List (high evidence)	UGT1A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperbilirubinemia, familial transient neonatal MIM# 237900 Crigler-Najjar syndrome, type I MIM#218800 Crigler-Najjar syndrome, type II MIM#606785 Tags
Green Green List (high evidence)	UQCRFS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes fetal bradycardia Mitochondrial Complex III deficiency hypertrophic cardiomyopathy lactic acidosis alopecia totalis Tags
Green Green List (high evidence)	VCL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1W, MIM# 611407 Tags
Green Green List (high evidence)	VHL	0 reviews	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)	VIPAS39	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404 Tags
Green Green List (high evidence)	VKORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473 Tags
Green Green List (high evidence)	VPS33B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085 Tags
Green Green List (high evidence)	VWF	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes von Willebrand disease, type 1, MIM#193400 von Willibrand disease, type 3, MIM#277480 von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554 Tags
Green Green List (high evidence)	WAS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Wiskott-Aldrich syndrome, MIM# 301000 Thrombocytopenia, X-linked, MIM# 313900 Tags
Green Green List (high evidence)	WFS1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes diabetes insipidus or optic atrophy ?Cataract 41,116400 Wolfram syndrome, 222300 Deafness,autosomal dominant 6/14/38, 600965 {Diabetes mellitus, noninsulin-dependent, association with}, 125853 {Diabetes mellitus, noninsulin-dependent,association with} Deafness, autosomal dominant 6/14/38, 600965 Wolfram-like syndrome, autosomal dominant, 614296 Tags
Green Green List (high evidence)	WIPF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Wiskott-Aldrich syndrome 2, MIM# 614493 Tags
Green Green List (high evidence)	WNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XV, MIM# 615220 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
Green Green List (high evidence)	XYLT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spondyloocular syndrome MIM#605822 Tags
No list No list	CFTR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Congenital bilateral absence of vas deferens MIM#277180 Cystic fibrosis MIM#219700 Tags

Transplant Co-Morbidity Superpanel (Version 0.18)

2 reviewers

278 Entities

15 reviewed, 277 green

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