Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ABCA1	gene	ABCA1	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	HDL deficiency, familial, 1, MIM# 604091;Tangier disease, MIM# 205400				10431237;10431236		False	3	0;0;0	0.18	False		ENSG00000165029	ENSG00000165029	HGNC:29													
ABCC8	gene	ABCC8	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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						False	3	0;0;0	0.18	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000006071	ENSG00000006071	HGNC:59													
ABCG5	gene	ABCG5	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Sitosterolaemia 2, MIM# 618666						False	3	0;0;0	0.18	False		ENSG00000138075	ENSG00000138075	HGNC:13886													
ABCG8	gene	ABCG8	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Sitosterolemia 1, MIM# 210250				32546081;23556150		False	3	0;0;0	0.18	False		ENSG00000143921	ENSG00000143921	HGNC:13887													
ACTA2	gene	ACTA2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic aneurysm, familial thoracic 6, MIM# 611788						False	3	0;0;0	0.18	False		ENSG00000107796	ENSG00000107796	HGNC:130													
ACTB	gene	ACTB	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Syndromic thrombocytopaenia				30315159		False	3	0;0;0	0.18	False		ENSG00000075624	ENSG00000075624	HGNC:132													
ACTC1	gene	ACTC1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1R, MIM# 613424;Cardiomyopathy, hypertrophic, 11, MIM# 612098;Left ventricular noncompaction 4, MIM# 613424				26432839;20600154;30384889;14605248;31430208;9563954		False	3	0;0;0	0.18	False		ENSG00000159251	ENSG00000159251	HGNC:143													
ACTN1	gene	ACTN1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bleeding disorder, platelet-type, 15, MIM# 615193				23434115		False	3	0;0;0	0.18	False		ENSG00000072110	ENSG00000072110	HGNC:163													
ACVRL1	gene	ACVRL1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376				34012068		False	3	0;0;0	0.18	False		ENSG00000139567	ENSG00000139567	HGNC:175													
ADAMTS13	gene	ADAMTS13	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150				30312976;11586351		False	3	0;0;0	0.18	False		ENSG00000160323	ENSG00000160323	HGNC:1366													
AKT2	gene	AKT2	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes mellitus, type II, 125853;Severe insulin resistance, partial lipodystrophy and diabetes				17327441;15166380;17576055		False	3	0;0;0	0.18	False		ENSG00000105221	ENSG00000105221	HGNC:392													
ALMS1	gene	ALMS1	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Alstrom syndrome						False	3	0;0;0	0.18	False		ENSG00000116127	ENSG00000116127	HGNC:428													
ALPK3	gene	ALPK3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Cardiomyopathy, familial hypertrophic 27, MIM#618052				27106955;26846950;32480058		False	3	0;0;0	0.18	False		ENSG00000136383	ENSG00000136383	HGNC:17574													
ALPL	gene	ALPL	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	disorder of bone metabolism;Hypophosphatasia						False	3	0;0;0	0.18	False		ENSG00000162551	ENSG00000162551	HGNC:438													
ANKRD26	gene	ANKRD26	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopaenia 2, MIM# 188000				21211618		False	3	0;0;0	0.18	False		ENSG00000107890	ENSG00000107890	HGNC:29186													
ANO5	gene	ANO5	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Gnathodiaphyseal dysplasia MIM#166260				30712070;29175271;15124103;30641283		False	3	0;0;0	0.18	False		ENSG00000171714	ENSG00000171714	HGNC:27337													
ANO6	gene	ANO6	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	MONDO:0009885;Scott syndrome, MIM# 262890				21107324;27879994;11895776;27634832		False	3	0;0;0	0.18	False		ENSG00000177119	ENSG00000177119	HGNC:25240													
AP3B1	gene	AP3B1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 2, MIM# 608233;MONDO:0011997				10024875;11809908;14566336		False	3	0;0;0	0.18	False		ENSG00000132842	ENSG00000132842	HGNC:566													
APC	gene	APC	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Adenomatous polyposis coli, MIM# 175100						False	3	0;0;0	0.18	False		ENSG00000134982	ENSG00000134982	HGNC:583													
APOA1	gene	APOA1	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836				16023124		False	3	0;0;0	0.18	False		ENSG00000118137	ENSG00000118137	HGNC:600													
APOA5	gene	APOA5	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperchylomicronemia						False	3	0;0;0	0.18	False		ENSG00000110243	ENSG00000110243	HGNC:17288													
APOB	gene	APOB	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypobetalipoproteinemia, Hypercholesterolemia						False	3	0;0;0	0.18	False		ENSG00000084674	ENSG00000084674	HGNC:603													
APOC2	gene	APOC2	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperlipoproteinemia, type Ib MIM#207750				32280258;32292609;PMID: 32562799;26044956		False	3	0;0;0	0.18	False		ENSG00000234906	ENSG00000234906	HGNC:609													
APOE	gene	APOE	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy						False	3	0;0;0	0.18	False		ENSG00000130203	ENSG00000130203	HGNC:613													
ARPC1B	gene	ARPC1B	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718				29127144;27965109;28368018;30254128		False	3	0;0;0	0.18	False		ENSG00000130429	ENSG00000130429	HGNC:704													
ATP7B	gene	ATP7B	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Wilson disease, MIM# 277900						False	3	0;0;0	0.18	False		ENSG00000123191	ENSG00000123191	HGNC:870													
B3GALT6	gene	B3GALT6	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075				23664118;23664117		False	3	0;0;0	0.18	False		ENSG00000176022	ENSG00000176022	HGNC:17978													
B4GALT7	gene	B4GALT7	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070				26940150		False	3	0;0;0	0.18	False		ENSG00000027847	ENSG00000027847	HGNC:930													
BAG3	gene	BAG3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1HH, MIM# 613881;MONDO:0013479;Myopathy, myofibrillar, 6, MIM# 612954				25448463;24623017;21353195;29323723;28737513;27391596;25008357;35802134;30442290;31983221;33947203;28211974		False	3	0;0;0	0.18	False		ENSG00000151929	ENSG00000151929	HGNC:939													
BAG5	gene	BAG5	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 2F, MIM# 619747				35044787		False	3	0;0;0	0.18	False		ENSG00000166170	ENSG00000166170	HGNC:941													
BAP1	gene	BAP1	Expert Review Green;SA Pathology	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tumour predisposition syndrome, MIM#614327						False	3	0;0;0	0.18	False		ENSG00000163930	ENSG00000163930	HGNC:950													
BLOC1S3	gene	BLOC1S3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 8, MIM# 614077;MONDO:0013560				32687635;16385460;22709368		False	3	0;0;0	0.18	False		ENSG00000189114	ENSG00000189114	HGNC:20914													
BLOC1S5	gene	BLOC1S5	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky Pudlak syndrome type 11, MIM#619172				PMID: 32565547		False	3	0;0;0	0.18	False		ENSG00000188428	ENSG00000188428	HGNC:18561													
BLOC1S6	gene	BLOC1S6	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-pudlak syndrome 9, MIM# 614171				29054114;33543539;22461475;26575419;32245340;10610180		False	3	0;0;0	0.18	False		ENSG00000104164	ENSG00000104164	HGNC:8549													
BMP1	gene	BMP1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XIII , MIM#614856				25214535;25402547;22052668;22482805		False	3	0;0;0	0.18	False		ENSG00000168487	ENSG00000168487	HGNC:1067													
BMPR1A	gene	BMPR1A	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polyposis, juvenile intestinal, MIM# 174900						False	3	0;0;0	0.18	False		ENSG00000107779	ENSG00000107779	HGNC:1076													
BRCA1	gene	BRCA1	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Breast-ovarian cancer, familial, 1, MIM# 604370						False	3	0;0;0	0.18	False		ENSG00000012048	ENSG00000012048	HGNC:1100													
BRCA2	gene	BRCA2	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Breast-ovarian cancer, familial, 2, MIM#612555						False	3	0;0;0	0.18	False		ENSG00000139618	ENSG00000139618	HGNC:1101													
C1QBP	gene	C1QBP	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 33, MIM#617713				28942965		False	3	0;0;0	0.18	False		ENSG00000108561	ENSG00000108561	HGNC:1243													
CACNA1C	gene	CACNA1C	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 8, MIM# 618447;Timothy syndrome, MIM# 601005				31983240		False	3	0;0;0	0.18	False		ENSG00000151067	ENSG00000151067	HGNC:1390													
CACNA1S	gene	CACNA1S	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Malignant hyperthermia susceptibility 5, MIM# 601887						False	3	0;0;0	0.18	False		ENSG00000081248	ENSG00000081248	HGNC:1397													
CALM1	gene	CALM1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 14 616247;Ventricular tachycardia, catecholaminergic polymorphic, 4 614916				31170290		False	3	0;0;0	0.18	False		ENSG00000198668	ENSG00000198668	HGNC:1442													
CALM2	gene	CALM2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 15 616249;idopathic VF;sudden unexplained death				31983240;31170290		False	3	0;0;0	0.18	False		ENSG00000143933	ENSG00000143933	HGNC:1445													
CALM3	gene	CALM3	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 16, MIM# 618782				25460178;31454269		False	3	0;0;0	0.18	False		ENSG00000160014	ENSG00000160014	HGNC:1449													
CASQ2	gene	CASQ2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938				16908766;11704930;34012068		False	3	0;0;0	0.18	False		ENSG00000118729	ENSG00000118729	HGNC:1513													
CASR	gene	CASR	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	severe hypercalcemia, bone demineralization, multiple fractures;Hyperparathyroidism, neonatal, MIM# 239200				22620673		False	3	0;0;0	0.18	False		ENSG00000036828	ENSG00000036828	HGNC:1514													
CCDC134	gene	CCDC134	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XXII, MIM#619795				32181939;35019224;34204301		False	3	0;0;0	0.18	False		ENSG00000100147	ENSG00000100147	HGNC:26185													
CDC42	gene	CDC42	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Takenouchi-Kosaki syndrome, MIM#616737				29394990		False	3	0;0;0	0.18	False		ENSG00000070831	ENSG00000070831	HGNC:1736													
CDK4	gene	CDK4	Expert Review Green;SA Pathology	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Melanoma, cutaneous malignant, MIM#609408						False	3	0;0;0	0.18	False		ENSG00000135446	ENSG00000135446	HGNC:1773													
CDKN2A	gene	CDKN2A	Expert Review Green;SA Pathology	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	3	0;0;0	0.18	False		ENSG00000147889	ENSG00000147889	HGNC:1787													
CHST14	gene	CHST14	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776						False	3	0;0;0	0.18	False		ENSG00000169105	ENSG00000169105	HGNC:24464													
COL1A1	gene	COL1A1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Osteogenesis imperfecta						False	3	0;0;0	0.18	False		ENSG00000108821	ENSG00000108821	HGNC:2197													
COL1A2	gene	COL1A2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120						False	3	0;0;0	0.18	False		ENSG00000164692	ENSG00000164692	HGNC:2198													
COL3A1	gene	COL3A1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ehlers-Danlos syndrome, vascular type, MIM# 130050						False	3	0;0;0	0.18	False		ENSG00000168542	ENSG00000168542	HGNC:2201													
COPB2	gene	COPB2	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884				34450031		False	3	0;0;0	0.18	False		ENSG00000184432	ENSG00000184432	HGNC:2232													
CREB3L1	gene	CREB3L1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XVI, 616229				24079343;29936144;30657919;28817112		False	3	0;0;0	0.18	False		ENSG00000157613	ENSG00000157613	HGNC:18856													
CRTAP	gene	CRTAP	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type VII MIM#610682				21955071;17192541;19846465		False	3	0;0;0	0.18	False		ENSG00000170275	ENSG00000170275	HGNC:2379													
CSRP3	gene	CSRP3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic, 12, MIM# 612124				18505755;30681346		False	3	0;0;0	0.18	False		ENSG00000129170	ENSG00000129170	HGNC:2472													
CYCS	gene	CYCS	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopenia 4, MIM# 612004				24326104;30051457;18345000		False	3	0;0;0	0.18	False		ENSG00000172115	ENSG00000172115	HGNC:19986													
CYP27A1	gene	CYP27A1	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebrotendinous xanthomatosis MIM#213700				30720493;20301583;2019602		False	3	0;0;0	0.18	False		ENSG00000135929	ENSG00000135929	HGNC:2605													
CYP2C19	gene	CYP2C19	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	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				12464799		False	3	100;0;0	0.18	True		ENSG00000165841	ENSG00000165841	HGNC:2621													
CYP2C9	gene	CYP2C9	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tolbutamide poor metabolizer, Warfarin sensitivity MIM# 122700				12893985		False	3	100;0;0	0.18	True		ENSG00000138109	ENSG00000138109	HGNC:2623													
CYP3A5	gene	CYP3A5	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypertension, salt-sensitive essential, susceptibility to MIM#145500						False	3	100;0;0	0.18	True		ENSG00000106258	ENSG00000106258	HGNC:2638													
CYP4F2	gene	CYP4F2	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Warfarin dosage sensitivity MIM# 122700				25370453;20555338;19207028;18250228		False	3	100;0;0	0.18	True		ENSG00000186115	ENSG00000186115	HGNC:2645													
DES	gene	DES	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy, dilated, 1I, MIM# 604765;Myopathy, myofibrillar, 1 , MIM#601419				23168288;20423733;20829228;19879535;22395865;24200904;29212896		False	3	0;0;0	0.18	False		ENSG00000175084	ENSG00000175084	HGNC:2770													
DIAPH1	gene	DIAPH1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900				27808407];26912466		False	3	0;0;0	0.18	False		ENSG00000131504	ENSG00000131504	HGNC:2876													
DMD	gene	DMD	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Cardiomyopathy, dilated, 3B (MIM#302045)				26066469		False	3	0;0;0	0.18	False		ENSG00000198947	ENSG00000198947	HGNC:2928													
DPYD	gene	DPYD	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dihydropyrimidine dehydrogenase deficiency MIM#274270;5-fluorouracil toxicity MIM#274270;Disorders of pyrimidine metabolism						False	3	100;0;0	0.18	True		ENSG00000188641	ENSG00000188641	HGNC:3012													
DSC2	gene	DSC2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Arrhythmogenic right ventricular dysplasia 11, MIM# 610476;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476				28339476;18957847;23863954;17963498;17033975;17186466;21062920;33831308		False	3	0;0;0	0.18	False		ENSG00000134755	ENSG00000134755	HGNC:3036													
DSG2	gene	DSG2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia 10, MIM# 610193				33831308		False	3	0;0;0	0.18	False		ENSG00000046604	ENSG00000046604	HGNC:3049													
DSP	gene	DSP	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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				24938629;20864495;22240500;25765472;11063735;24108106;31073624;15941723;31983221;21397041;23954618;30345701;33831308		False	3	0;0;0	0.18	False		ENSG00000096696	ENSG00000096696	HGNC:3052													
DTNBP1	gene	DTNBP1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	MONDO:0013559;Hermansky-Pudlak syndrome 7, MIM# 614076				23364359;30990103;12923531;28259707		False	3	0;0;0	0.18	False		ENSG00000047579	ENSG00000047579	HGNC:17328													
EIF2B1	gene	EIF2B1	Expert Review;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related				31882561		False	3	0;0;0	0.18	False		ENSG00000111361	ENSG00000111361	HGNC:3257													
ENG	gene	ENG	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300				34012068		False	3	0;0;0	0.18	False		ENSG00000106991	ENSG00000106991	HGNC:3349													
ETV6	gene	ETV6	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopaenia 5, MIM# 616216				25807284;25581430		False	3	0;0;0	0.18	False		ENSG00000139083	ENSG00000139083	HGNC:3495													
F10	gene	F10	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Factor X deficiency, MIM# 227600;MONDO:0009212				2567188;10746568;2790181;12028042		False	3	0;0;0	0.18	False		ENSG00000126218	ENSG00000126218	HGNC:3528													
F11	gene	F11	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Factor XI deficiency, autosomal dominant 612416;Factor XI deficiency, autosomal recessive, MIM#612416				18446632;15026311		False	3	0;0;0	0.18	False		ENSG00000088926	ENSG00000088926	HGNC:3529													
F13A1	gene	F13A1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Factor XIIIA deficiency, MIM# 613225;MONDO:0013187				1644910;10027709;7727776;32060721;33802692		False	3	0;0;0	0.18	False		ENSG00000124491	ENSG00000124491	HGNC:3531													
F13B	gene	F13B	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Factor XIIIB deficiency, MIM#613235				26247044;20331752		False	3	0;0;0	0.18	False		ENSG00000143278	ENSG00000143278	HGNC:3534													
F2	gene	F2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	{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				30297698		False	3	0;0;0	0.18	False	Other	ENSG00000180210	ENSG00000180210	HGNC:3535													
F5	gene	F5	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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						False	3	0;0;0	0.18	False		ENSG00000198734	ENSG00000198734	HGNC:3542													
F7	gene	F7	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	MONDO:0009211;Factor VII deficiency, MIM# 227500				12181036		False	3	0;0;0	0.18	False		ENSG00000057593	ENSG00000057593	HGNC:3544													
F8	gene	F8	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071;MONDO:0010602;Haemophilia A, MIM# 306700				2986011;3097553		False	3	0;0;0	0.18	False		ENSG00000185010	ENSG00000185010	HGNC:3546													
F9	gene	F9	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Haemophilia B, MIM# 306900;Thrombophilia, X-linked, due to factor IX defect, MIM# 300807;MONDO:0010432;MONDO:0010604				33656538;34015304;19846852		False	3	0;0;0	0.18	False		ENSG00000101981	ENSG00000101981	HGNC:3551													
FAM46A	gene	FAM46A	Expert Review Green;Expert Review Green, Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XVIII, MIM# 617952						False	3	0;0;0	0.18	False		ENSG00000112773	ENSG00000112773	HGNC:18345													
FBN1	gene	FBN1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Marfan syndrome, MIM# 154700						False	3	0;0;0	0.18	False		ENSG00000166147	ENSG00000166147	HGNC:3603													
FERMT3	gene	FERMT3	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukocyte adhesion deficiency, type III, MIM# 612840						False	3	0;0;0	0.18	False		ENSG00000149781	ENSG00000149781	HGNC:23151													
FGA	gene	FGA	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Afibrinogenemia, congenital (MIM#202400)				17295221;11739173;19073821;31064749		False	3	0;0;0	0.18	False		ENSG00000171560	ENSG00000171560	HGNC:3661													
FGB	gene	FGB	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Afibrinogenaemia, congenital, MIM# 202400;Hypofibrinogenaemia, congenital, MIM# 202400;Dysfibrinogenemia, congenital, MIM# 616004				12393540;16195396		False	3	0;0;0	0.18	False		ENSG00000171564	ENSG00000171564	HGNC:3662													
FGG	gene	FGG	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Afibrinogenaemia, congenital, MIM# 202400;Hypofibrinogenaemia, congenital, MIM# 202400;Dysfibrinogenemia, congenital, MIM# 616004				3337908;11001903;11001902		False	3	0;0;0	0.18	False		ENSG00000171557	ENSG00000171557	HGNC:3694													
FHL1	gene	FHL1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696						False	3	0;0;0	0.18	False		ENSG00000022267	ENSG00000022267	HGNC:3702													
FHOD3	gene	FHOD3	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiomyopathy, familial hypertrophic, 28, MIM# 619402				30442288;33586461;32335906;31742804		False	3	0;0;0	0.18	False		ENSG00000134775	ENSG00000134775	HGNC:26178													
FKBP10	gene	FKBP10	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XI, 610968						False	3	0;0;0	0.18	False		ENSG00000141756	ENSG00000141756	HGNC:18169													
FKRP	gene	FKRP	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155				PMID: 32914449		False	3	0;0;0	0.18	False		ENSG00000181027	ENSG00000181027	HGNC:17997													
FLI1	gene	FLI1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Bleeding disorder, platelet-type, 21, MIM# 617443				28255014;24100448;26316623		False	3	0;0;0	0.18	False		ENSG00000151702	ENSG00000151702	HGNC:3749													
FLNA	gene	FLNA	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Macrothrombocytopaenia				32299270		False	3	0;0;0	0.18	False		ENSG00000196924	ENSG00000196924	HGNC:3754													
FLNC	gene	FLNC	Expert Review;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, familial hypertrophic, 26;Arrhythmogenic right ventricular cardiomyopathy;Dilated cardiomyopathy				28356264;30411535;31924696		False	3	0;0;0	0.18	False		ENSG00000128591	ENSG00000128591	HGNC:3756													
G6PD	gene	G6PD	Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Haemolytic anaemia						False	3	100;0;0	0.18	False		ENSG00000160211	ENSG00000160211	HGNC:4057													
GATA1	gene	GATA1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367						False	3	0;0;0	0.18	False		ENSG00000102145	ENSG00000102145	HGNC:4170													
GATA4	gene	GATA4	Expert Review Green;NHS GMS;UKGTN	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					20854389;27810688;24696446		False	3	0;0;0	0.18	False		ENSG00000136574	ENSG00000136574	HGNC:4173													
GATA6	gene	GATA6	Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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						False	3	0;0;0	0.18	False		ENSG00000141448	ENSG00000141448	HGNC:4174													
GBA	gene	GBA	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Gaucher disease						False	3	0;0;0	0.18	False		ENSG00000177628	ENSG00000177628	HGNC:4177													
GCK	gene	GCK	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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)				19790256		False	3	0;0;0	0.18	False		ENSG00000106633	ENSG00000106633	HGNC:4195													
GFI1B	gene	GFI1B	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Bleeding disorder, platelet-type, 17 MIM#187900				24325358;28041820;11825872;23927492		False	3	0;0;0	0.18	False		ENSG00000165702	ENSG00000165702	HGNC:4238													
GGCX	gene	GGCX	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450				32785662;26758921;30531603		False	3	0;0;0	0.18	False		ENSG00000115486	ENSG00000115486	HGNC:4247													
GLA	gene	GLA	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Fabry disease (MIM# 301500)				30681346		False	3	0;0;0	0.18	False		ENSG00000102393	ENSG00000102393	HGNC:4296													
GNE	gene	GNE	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Thrombocytopaenia;Myopathy				30171045;25257349;32505938;29941673		False	3	0;0;0	0.18	False		ENSG00000159921	ENSG00000159921	HGNC:23657													
GORAB	gene	GORAB	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Geroderma osteodysplasticum, MIM# 231070						False	3	0;0;0	0.18	False		ENSG00000120370	ENSG00000120370	HGNC:25676													
GP1BA	gene	GP1BA	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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)				24934643		False	3	0;0;0	0.18	False		ENSG00000185245	ENSG00000185245	HGNC:4439													
GP1BB	gene	GP1BB	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Macrothrombocytopaenia;Bernard-Soulier syndrome, type B, MIM# 231200				33813986;33657022;11222377;8703016;10887115;9116284;33216977;1730088;31997307		False	3	0;0;0	0.18	False		ENSG00000203618	ENSG00000203618	HGNC:4440													
GP6	gene	GP6	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Bleeding disorder, platelet-type, 11, MIM# 614201;MONDO:0013623				19549989;23815599;19552682		False	3	0;0;0	0.18	False		ENSG00000088053	ENSG00000088053	HGNC:14388													
GP9	gene	GP9	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Bernard-Soulier syndrome, type C, MIM# 231200				32030720;8049428;33553065;31484196		False	3	0;0;0	0.18	False		ENSG00000169704	ENSG00000169704	HGNC:4444													
GPIHBP1	gene	GPIHBP1	Expert list;Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperlipoproteinemia, type ID						False	3	0;0;0	0.18	False		ENSG00000182851	ENSG00000277494	HGNC:24945													
HCN4	gene	HCN4	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sick sinus syndrome 2, MIM# 163800				15123648;16407510;12750403;25145518;17646576		False	3	0;0;0	0.18	False		ENSG00000138622	ENSG00000138622	HGNC:16882													
HFE	gene	HFE	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Haemochromatosis, MIM# 235200						False	3	0;0;0	0.18	False		ENSG00000010704	ENSG00000010704	HGNC:4886													
HNF1A	gene	HNF1A	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	MODY, type III , MIM#600496				34012068		False	3	0;0;0	0.18	False		ENSG00000135100	ENSG00000135100	HGNC:11621													
HNF1B	gene	HNF1B	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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						False	3	0;0;0	0.18	False		ENSG00000108753	ENSG00000275410	HGNC:11630													
HNF4A	gene	HNF4A	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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				28242437		False	3	0;0;0	0.18	False		ENSG00000101076	ENSG00000101076	HGNC:5024													
HPS1	gene	HPS1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	MONDO:0008748;Hermansky-Pudlak syndrome 1, MIM# 203300				9497254		False	3	0;0;0	0.18	False		ENSG00000107521	ENSG00000107521	HGNC:5163													
HPS3	gene	HPS3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 3, MIM# 614072;MONDO:0013555				30990103;11455388;31621111;31880485		False	3	0;0;0	0.18	False		ENSG00000163755	ENSG00000163755	HGNC:15597													
HPS4	gene	HPS4	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 4, MIM# 614073;MONDO:0013556				12664304;11836498		False	3	0;0;0	0.18	False		ENSG00000100099	ENSG00000100099	HGNC:15844													
HPS5	gene	HPS5	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 5 (MIM#614074)				28296950;32725903		False	3	0;0;0	0.18	False		ENSG00000110756	ENSG00000110756	HGNC:17022													
HPS6	gene	HPS6	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 6, MIM# 614075;MONDO:0013558				12548288;19843503;17041891		False	3	0;0;0	0.18	False		ENSG00000166189	ENSG00000166189	HGNC:18817													
HRG	gene	HRG	Expert Review;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombophilia 11 due to HRG deficiency, MIM# 613116				11057869;8236132;29108964		False	3	0;0;0	0.18	False		ENSG00000113905	ENSG00000113905	HGNC:5181													
IFITM5	gene	IFITM5	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Osteogenesis imperfecta type V, MIM#610967				22863195;22863190;32383316;24519609		False	3	0;0;0	0.18	False	Other	ENSG00000206013	ENSG00000206013	HGNC:16644													
IKZF5	gene	IKZF5	Expert Review;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopaenia 7, MIM#619130				31217188		False	3	0;0;0	0.18	False		ENSG00000095574	ENSG00000095574	HGNC:14283													
INS	gene	INS	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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						False	3	0;0;0	0.18	False		ENSG00000254647	ENSG00000254647	HGNC:6081													
INSR	gene	INSR	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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				8288049		False	3	0;0;0	0.18	False		ENSG00000171105	ENSG00000171105	HGNC:6091													
ITGA2B	gene	ITGA2B	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Glanzmann thrombasthaenia 1, MIM# 273800;MONDO:000855;Bleeding disorder, platelet-type, 16, MIM# 187800				21454453;8282784;1638023;16463284		False	3	0;0;0	0.18	False		ENSG00000005961	ENSG00000005961	HGNC:6138													
ITGB3	gene	ITGB3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bleeding disorder, platelet-type, 24, MIM#619271;MONDO:0008552				19336737;20081061;18065693;23253071		False	3	0;0;0	0.18	False		ENSG00000259207	ENSG00000259207	HGNC:6156													
JUP	gene	JUP	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Arrhythmogenic right ventricular dysplasia 12 MIM# 611528;Naxos disease MIM# 601214				17924338;33831308;16722579		False	3	0;0;0	0.18	False		ENSG00000173801	ENSG00000173801	HGNC:6207													
KCNH2	gene	KCNH2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 2, MIM# 613688;Short QT syndrome				31983240		False	3	0;0;0	0.18	False		ENSG00000055118	ENSG00000055118	HGNC:6251													
KCNJ11	gene	KCNJ11	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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						False	3	0;0;0	0.18	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000187486	ENSG00000187486	HGNC:6257													
KCNJ2	gene	KCNJ2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short QT syndrome;long QT syndrome;Andersen-Tawil syndrome				31983240;34557911		False	3	0;0;0	0.18	False		ENSG00000123700	ENSG00000123700	HGNC:6263													
KCNQ1	gene	KCNQ1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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				20301308;34557911		False	3	0;0;0	0.18	False		ENSG00000053918	ENSG00000053918	HGNC:6294													
KDELR2	gene	KDELR2	Expert Review;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Increased susceptibility to fractures;Bowing of the legs;Osteogenesis imperfecta 21, MIM# 619131;joint hypermobility;Bowing of the arms;Scoliosis				33053334		False	3	0;0;0	0.18	False		ENSG00000136240	ENSG00000136240	HGNC:6305													
KDSR	gene	KDSR	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Erythrokeratodermia variabilis et progressiva 4, MIM# 617526;severe thrombocytopaenia				28774589;30467204		False	3	0;0;0	0.18	False		ENSG00000119537	ENSG00000119537	HGNC:4021													
KLHL24	gene	KLHL24	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236				27798626;30715372;27889062		False	3	0;0;0	0.18	False		ENSG00000114796	ENSG00000114796	HGNC:25947													
LAMP2	gene	LAMP2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Danon disease, MIM#300257				25228319;27165304;30681346		False	3	0;0;0	0.18	False		ENSG00000005893	ENSG00000005893	HGNC:6501													
LCAT	gene	LCAT	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Disorders of high density lipoprotein metabolism;Norum disease MIM#245900;Fish-eye disease MIM#136120				30720493;6624548		False	3	0;0;0	0.18	False		ENSG00000213398	ENSG00000213398	HGNC:6522													
LDLR	gene	LDLR	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypercholesterolemia, familial, 1, MIM# 143890						False	3	0;0;0	0.18	False		ENSG00000130164	ENSG00000130164	HGNC:6547													
LDLRAP1	gene	LDLRAP1	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypercholesterolemia, familial, 4, MIM# 603813				4351242		False	3	0;0;0	0.18	False		ENSG00000157978	ENSG00000157978	HGNC:18640													
LIPA	gene	LIPA	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Wolman disease, Cholesterol ester storage disease						False	3	0;0;0	0.18	False		ENSG00000107798	ENSG00000107798	HGNC:6617													
LIPC	gene	LIPC	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Inherited mixed hyperlipidaemias;Hepatic lipase deficiency MIM#614025;hyperalphalipoproteinemia				1671786;12777476;23219720;26423094;1883393;22464213		False	3	0;0;0	0.18	False		ENSG00000166035	ENSG00000166035	HGNC:6619													
LMAN1	gene	LMAN1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	MONDO:0009206;Combined factor V and VIII deficiency, MIM# 227300				16304051;9546392		False	3	0;0;0	0.18	False		ENSG00000074695	ENSG00000074695	HGNC:6631													
LMF1	gene	LMF1	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined lipase deficiency						False	3	0;0;0	0.18	False		ENSG00000103227	ENSG00000103227	HGNC:14154													
LMNA	gene	LMNA	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1A, MIM# 115200				33947203		False	3	0;0;0	0.18	False		ENSG00000160789	ENSG00000160789	HGNC:6636													
LOX	gene	LOX	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic aneurysm, familial thoracic 10, MIM# 617168				30675029;30071989;26838787		False	3	0;0;0	0.18	False		ENSG00000113083	ENSG00000113083	HGNC:6664													
LPL	gene	LPL	Expert Review Green;Royal Melbourne Hospital	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial						False	3	0;0;0	0.18	False		ENSG00000175445	ENSG00000175445	HGNC:6677													
LRP5	gene	LRP5	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Osteopetrosis, autosomal dominant 1, MIM# 607634						False	3	0;0;0	0.18	False		ENSG00000162337	ENSG00000162337	HGNC:6697													
LYST	gene	LYST	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Chediak-Higashi syndrome, MIM# 214500						False	3	0;0;0	0.18	False		ENSG00000143669	ENSG00000143669	HGNC:1968													
MAX	gene	MAX	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Pheochromocytoma, susceptibility to} 171300				34012068		False	3	0;0;0	0.18	False		ENSG00000125952	ENSG00000125952	HGNC:6913													
MCFD2	gene	MCFD2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Factor V and factor VIII, combined deficiency of, MIM# 613625;MONDO:0013331				16304051;18391077;12717434		False	3	0;0;0	0.18	False		ENSG00000180398	ENSG00000180398	HGNC:18451													
MECOM	gene	MECOM	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738						False	3	0;0;0	0.18	False		ENSG00000085276	ENSG00000085276	HGNC:3498													
MED12	gene	MED12	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lujan-Fryns syndrome, MIM# 309520						False	3	0;0;0	0.18	False		ENSG00000184634	ENSG00000184634	HGNC:11957													
MEN1	gene	MEN1	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Multiple endocrine neoplasia 1, MIM# 131100						False	3	0;0;0	0.18	False		ENSG00000133895	ENSG00000133895	HGNC:7010													
MESD	gene	MESD	Expert Review Green;Other	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XX, MIM# 618644				31564437		False	3	0;0;0	0.18	False		ENSG00000117899	ENSG00000117899	HGNC:13520													
MLH1	gene	MLH1	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310						False	3	0;0;0	0.18	False		ENSG00000076242	ENSG00000076242	HGNC:7127													
MPI	gene	MPI	Expert Review;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	MPI-CDG MONDO:0011257;Congenital disorder of glycosylation, type Ib, MIM# 602579				32266963;10980531;12414827;33098580;32905087;30242110;33204592;9585601		False	3	0;0;0	0.18	False		ENSG00000178802	ENSG00000178802	HGNC:7216													
MPIG6B	gene	MPIG6B	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441				29898956;31276734;27743390		False	3	0;0;0	0.18	False		ENSG00000204420	ENSG00000204420	HGNC:13937													
MPL	gene	MPL	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Thrombocytopenia, congenital amegakaryocytic, MIM# 604498				11133753		False	3	0;0;0	0.18	False		ENSG00000117400	ENSG00000117400	HGNC:7217													
MSH2	gene	MSH2	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435						False	3	0;0;0	0.18	False		ENSG00000095002	ENSG00000095002	HGNC:7325													
MSH6	gene	MSH6	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350						False	3	0;0;0	0.18	False		ENSG00000116062	ENSG00000116062	HGNC:7329													
MT-RNR1	gene	MT-RNR1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MITOCHONDRIAL	Deafness, mitochondrial, modifier of MIM# 580000						False	3	100;0;0	0.18	True		ENSG00000211459	ENSG00000211459	HGNC:7470													
MTTP	gene	MTTP	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Inherited hypolipidaemias;Abetalipoproteinemia MIM#200100				30720493;27604308;8533758		False	3	0;0;0	0.18	False		ENSG00000138823	ENSG00000138823	HGNC:7467													
MYBPC3	gene	MYBPC3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Cardiomyopathy, dilated, 1MM, MIM# 615396;Left ventricular noncompaction 10, MIM# 615396;Cardiomyopathy, hypertrophic, 4, MIM# 115197				30681346;20378854		False	3	0;0;0	0.18	False		ENSG00000134571	ENSG00000134571	HGNC:7551													
MYH11	gene	MYH11	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic aneurysm, familial thoracic 4, MIM# 132900						False	3	0;0;0	0.18	False		ENSG00000133392	ENSG00000133392	HGNC:7569													
MYH7	gene	MYH7	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	MONDO:0013262;Cardiomyopathy, dilated, 1S, MIM# 613426;Cardiomyopathy, hypertrophic, 1, MIM# 192600				30874888;25935763;30384889;30681346;24119082;21483645;27000522;24558114;21846512;33947203;31179125;27965028		False	3	0;0;0	0.18	False		ENSG00000092054	ENSG00000092054	HGNC:7577													
MYH9	gene	MYH9	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100						False	3	0;0;0	0.18	False		ENSG00000100345	ENSG00000100345	HGNC:7579													
MYL2	gene	MYL2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic, 10, MIM# 608758				30681346		False	3	0;0;0	0.18	False		ENSG00000111245	ENSG00000111245	HGNC:7583													
MYL3	gene	MYL3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cardiomyopathy, hypertrophic, 8, MIM# 608751				30681346		False	3	0;0;0	0.18	False		ENSG00000160808	ENSG00000160808	HGNC:7584													
MYLK	gene	MYLK	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic aneurysm, familial thoracic 7, MIM# 613780						False	3	0;0;0	0.18	False		ENSG00000065534	ENSG00000065534	HGNC:7590													
NBAS	gene	NBAS	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800;immunodeficiency;short stature;bone fragility;developmental delay;autism				29955634;27789416		False	3	0;0;0	0.18	False		ENSG00000151779	ENSG00000151779	HGNC:15625													
NBEAL2	gene	NBEAL2	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Gray platelet syndrome, MIM# 139090				21765412;21765411;21765413		False	3	0;0;0	0.18	False		ENSG00000160796	ENSG00000160796	HGNC:31928													
NEUROD1	gene	NEUROD1	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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				10545951;26773576;26669242;20573748		False	3	0;0;0	0.18	False		ENSG00000162992	ENSG00000162992	HGNC:7762													
NEXN	gene	NEXN	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1CC, MIM# 613122				28416588;27532257;19881492;24503780;29540472;25163546;26659360		False	3	0;0;0	0.18	False		ENSG00000162614	ENSG00000162614	HGNC:29557													
NF2	gene	NF2	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurofibromatosis, type 2, MIM# 101000						False	3	0;0;0	0.18	False		ENSG00000186575	ENSG00000186575	HGNC:7773													
NOTCH1	gene	NOTCH1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic aneurysm				26820064;25963545;16729972;16025100		False	3	0;0;0	0.18	False		ENSG00000148400	ENSG00000148400	HGNC:7881													
NOTCH2	gene	NOTCH2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hajdu-Cheney syndrome (MIM#102500)				21378989;21378985;16773578		False	3	0;0;0	0.18	False		ENSG00000134250	ENSG00000134250	HGNC:7882													
NUDT15	gene	NUDT15	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	Other	Thiopurines, poor metabolism of, 2 MIM# 616903				26878724		False	3	100;0;0	0.18	True		ENSG00000136159	ENSG00000136159	HGNC:23063													
P2RY12	gene	P2RY12	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	MONDO:0012354;Bleeding disorder, platelet-type, 8, MIM# 609821				29117459;11196645;12578987;19237732		False	3	0;0;0	0.18	False		ENSG00000169313	ENSG00000169313	HGNC:18124													
P3H1	gene	P3H1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type VIII, (MIM# 610915)				18566967;17277775		False	3	0;0;0	0.18	False		ENSG00000117385	ENSG00000117385	HGNC:19316													
P4HB	gene	P4HB	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cole-Carpenter syndrome 1, MIM#112240				25683117;30063094;29384951;29263160		False	3	0;0;0	0.18	False		ENSG00000185624	ENSG00000185624	HGNC:8548													
PALB2	gene	PALB2	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Breast cancer, susceptibility to} 114480				34012068		False	3	0;0;0	0.18	False		ENSG00000083093	ENSG00000083093	HGNC:26144													
PAX6	gene	PAX6	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	diabetes;Aniridia 106210						False	3	0;0;0	0.18	False		ENSG00000007372	ENSG00000007372	HGNC:8620													
PCSK9	gene	PCSK9	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypercholesterolemia, familial, 3, MIM# 603776						False	3	0;0;0	0.18	False		ENSG00000169174	ENSG00000169174	HGNC:20001													
PKP2	gene	PKP2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia 9, MIM# 609040				33831308		False	3	0;0;0	0.18	False		ENSG00000057294	ENSG00000057294	HGNC:9024													
PLA2G4A	gene	PLA2G4A	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372				23268370;25102815;18451993		False	3	0;0;0	0.18	False		ENSG00000116711	ENSG00000116711	HGNC:9035													
PLAU	gene	PLAU	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Quebec platelet disorder, MIM# 601709				20007542		False	3	0;0;0	0.18	False		ENSG00000122861	ENSG00000122861	HGNC:9052													
PLN	gene	PLN	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic, 18 (MIM #613874);Cardiomyopathy, dilated, 1P, MIM# 609909				33947203;30681346		False	3	0;0;0	0.18	False		ENSG00000198523	ENSG00000198523	HGNC:9080													
PLOD2	gene	PLOD2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Bruck syndrome 2, MIM# 609220				12881513;22689593;15523624		False	3	0;0;0	0.18	False		ENSG00000152952	ENSG00000152952	HGNC:9082													
PLS3	gene	PLS3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Bone mineral density QTL18, osteoporosis						False	3	0;0;0	0.18	False		ENSG00000102024	ENSG00000102024	HGNC:9091													
PMS2	gene	PMS2	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337						False	3	0;0;0	0.18	False		ENSG00000122512	ENSG00000122512	HGNC:9122													
PPARG	gene	PPARG	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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						False	3	0;0;0	0.18	False		ENSG00000132170	ENSG00000132170	HGNC:9236													
PPIB	gene	PPIB	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type IX, MIM# 259440				32392875;19781681		False	3	0;0;0	0.18	False		ENSG00000166794	ENSG00000166794	HGNC:9255													
PRDM16	gene	PRDM16	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Left ventricular noncompaction 8 MIM#615373;Cardiomyopathy, dilated, 1LL MIM#615373				34540771;34935411;29367541;24387995;32183154;33500567;33082984;34350506;31965688;29447731;PMID: 23768516;30847666		False	3	0;0;0	0.18	False		ENSG00000142611	ENSG00000142611	HGNC:14000													
PRKAG2	gene	PRKAG2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic 6, MIM# 600858				30681346		False	3	0;0;0	0.18	False		ENSG00000106617	ENSG00000106617	HGNC:9386													
PRKG1	gene	PRKG1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic aneurysm, familial thoracic 8, MIM# 615436						False	3	0;0;0	0.18	False		ENSG00000185532	ENSG00000185532	HGNC:9414													
PTCH1	gene	PTCH1	Expert List;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 7, MIM# 610828						False	3	0;0;0	0.18	False		ENSG00000185920	ENSG00000185920	HGNC:9585													
PTEN	gene	PTEN	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Cowden syndrome 1, MIM# 158350						False	3	0;0;0	0.18	False		ENSG00000171862	ENSG00000171862	HGNC:9588													
PTPN11	gene	PTPN11	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 1, MIM# 163950						False	3	0;0;0	0.18	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000179295	ENSG00000179295	HGNC:9644													
RASGRP2	gene	RASGRP2	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Bleeding disorder, platelet-type, 18, MIM# 615888				32041177;24958846;30849270;32609603;31724816		False	3	0;0;0	0.18	False		ENSG00000068831	ENSG00000068831	HGNC:9879													
RB1	gene	RB1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Retinoblastoma MONDO:0008380						False	3	0;0;0	0.18	False		ENSG00000139687	ENSG00000139687	HGNC:9884													
RBM20	gene	RBM20	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1DD MIM#613172 AD				33947203;30871351;35802134		False	3	0;0;0	0.18	False		ENSG00000203867	ENSG00000203867	HGNC:27424													
RBM8A	gene	RBM8A	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Thrombocytopenia-absent radius syndrome, MIM# 274000						False	3	0;0;0	0.18	False		ENSG00000131795	ENSG00000265241	HGNC:9905													
RET	gene	RET	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Multiple endocrine neoplasia IIB, MIM# 162300;Multiple endocrine neoplasia IIA, MIM# 171400						False	3	0;0;0	0.18	False		ENSG00000165731	ENSG00000165731	HGNC:9967													
RUNX1	gene	RUNX1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399				10508512		False	3	0;0;0	0.18	False		ENSG00000159216	ENSG00000159216	HGNC:10471													
RYR1	gene	RYR1	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Malignant hyperthermia susceptibility 1}, MIM#145600						False	3	100;0;0	0.18	False		ENSG00000196218	ENSG00000196218	HGNC:10483													
RYR2	gene	RYR2	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772;Arrhythmogenic right ventricular dysplasia 2 , MIM#600996						False	3	0;0;0	0.18	False		ENSG00000198626	ENSG00000198626	HGNC:10484													
SCN5A	gene	SCN5A	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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}				21824921;22766342;22675453;31520233;29506689;19808398;15671429;21596231;29871609;17512504;31514951;22999724;31930659;20458009;30218094		False	3	0;0;0	0.18	False		ENSG00000183873	ENSG00000183873	HGNC:10593													
SDHAF2	gene	SDHAF2	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Paragangliomas 2, MIM# 601650						False	3	0;0;0	0.18	False		ENSG00000167985	ENSG00000167985	HGNC:26034													
SDHB	gene	SDHB	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Paragangliomas 4, MIM# 115310						False	3	0;0;0	0.18	False		ENSG00000117118	ENSG00000117118	HGNC:10681													
SDHC	gene	SDHC	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Paragangliomas 3, MIM# 605373						False	3	0;0;0	0.18	False		ENSG00000143252	ENSG00000143252	HGNC:10682													
SDHD	gene	SDHD	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pheochromocytoma, MIM# 171300;Paragangliomas 1, with or without deafness, MIM# 168000						False	3	0;0;0	0.18	False		ENSG00000204370	ENSG00000204370	HGNC:10683													
SEC24D	gene	SEC24D	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Cole-Carpenter syndrome 2, MIM# 616294				26467156;27942778;30462379;25683121		False	3	0;0;0	0.18	False		ENSG00000150961	ENSG00000150961	HGNC:10706													
SERPINE1	gene	SERPINE1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Plasminogen activator inhibitor-1 deficiency, MIM# 613329				15650551;9207454		False	3	0;0;0	0.18	False		ENSG00000106366	ENSG00000106366	HGNC:8583													
SERPINF1	gene	SERPINF1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type VI, MIM# 613982				28689307		False	3	0;0;0	0.18	False		ENSG00000132386	ENSG00000132386	HGNC:8824													
SERPINF2	gene	SERPINF2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Alpha-2-plasmin inhibitor deficiency, MIM# 262850				10583218;31441040;29656168;31282989;2572590		False	3	0;0;0	0.18	False		ENSG00000167711	ENSG00000167711	HGNC:9075													
SERPINH1	gene	SERPINH1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta						False	3	0;0;0	0.18	False		ENSG00000149257	ENSG00000149257	HGNC:1546													
SGMS2	gene	SGMS2	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550				32028018;30779713		False	3	0;0;0	0.18	False		ENSG00000164023	ENSG00000164023	HGNC:28395													
SKI	gene	SKI	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Shprintzen-Goldberg syndrome, MIM# 182212						False	3	0;0;0	0.18	False		ENSG00000157933	ENSG00000157933	HGNC:10896													
SLC2A10	gene	SLC2A10	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Arterial tortuosity syndrome, MIM# 208050						False	3	0;0;0	0.18	False		ENSG00000197496	ENSG00000197496	HGNC:13444													
SLC37A4	gene	SLC37A4	Expert Review Green;Literature;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	liver dysfunction;Congenital disorder of glycosylation;coagulation deficiency				33964207		False	3	0;0;0	0.18	False		ENSG00000137700	ENSG00000137700	HGNC:4061													
SLC40A1	gene	SLC40A1	Expert Review;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hemochromatosis, type 4 606069						False	3	0;0;0	0.18	False		ENSG00000138449	ENSG00000138449	HGNC:10909													
SLCO1B1	gene	SLCO1B1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	Other	"Hyperbilirubinemia, Rotor type, digenic	MIM# 237450"				19952871;5152405;35968761		False	3	100;0;0	0.18	True		ENSG00000134538	ENSG00000134538	HGNC:10959													
SLFN14	gene	SLFN14	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bleeding disorder, platelet-type, 20, MIM# 616913				26280575;26769223		False	3	0;0;0	0.18	False		ENSG00000236320	ENSG00000236320	HGNC:32689													
SMAD3	gene	SMAD3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loeys-Dietz syndrome 3, MIM# 613795						False	3	0;0;0	0.18	False		ENSG00000166949	ENSG00000166949	HGNC:6769													
SMAD4	gene	SMAD4	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050;Thoracic aortic aneurysm				30809044		False	3	0;0;0	0.18	False		ENSG00000141646	ENSG00000141646	HGNC:6770													
SP7	gene	SP7	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta type 12, MONDO:0013460;Osteogenesis imperfecta, type XII, OMIM:613849				32413570;29382611;34091789;20579626;35367406		False	3	0;0;0	0.18	False		ENSG00000170374	ENSG00000170374	HGNC:17321													
SPARC	gene	SPARC	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XVII, MIM# 616507				34462290;26027498		False	3	0;0;0	0.18	False		ENSG00000113140	ENSG00000113140	HGNC:11219													
SRC	gene	SRC	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopaenia 6, MIM# 616937				31204551;26936507		False	3	0;0;0	0.18	False		ENSG00000197122	ENSG00000197122	HGNC:11283													
STIM1	gene	STIM1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Stormorken syndrome, MIM# 185070						False	3	0;0;0	0.18	False		ENSG00000167323	ENSG00000167323	HGNC:11386													
SUFU	gene	SUFU	Expert List;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	SUFU-related neurodevelopmental disorder						False	3	0;0;0	0.18	False		ENSG00000107882	ENSG00000107882	HGNC:16466													
TBX5	gene	TBX5	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holt-Oram syndrome, MIM# 142900;Dilated cardiomyopathy				25725155;32236096;32449309;25963046		False	3	0;0;0	0.18	False		ENSG00000089225	ENSG00000089225	HGNC:11604													
TBXAS1	gene	TBXAS1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Ghosal hematodiaphyseal syndrome, MIM# 231095				18264100		False	3	0;0;0	0.18	False		ENSG00000059377	ENSG00000059377	HGNC:11609													
TECRL	gene	TECRL	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021				33367594;17666061;30790670;27861123		False	3	0;0;0	0.18	False		ENSG00000205678	ENSG00000205678	HGNC:27365													
TGFB2	gene	TGFB2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loeys-Dietz syndrome 4, MIM# 614816						False	3	0;0;0	0.18	False		ENSG00000092969	ENSG00000092969	HGNC:11768													
TGFB3	gene	TGFB3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loeys-Dietz syndrome 5, MIM# 615582						False	3	0;0;0	0.18	False		ENSG00000119699	ENSG00000119699	HGNC:11769													
TGFBR1	gene	TGFBR1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loeys-Dietz syndrome 1, MIM# 609192						False	3	0;0;0	0.18	False		ENSG00000106799	ENSG00000106799	HGNC:11772													
TGFBR2	gene	TGFBR2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loeys-Dietz syndrome 2, MIM# 610168						False	3	0;0;0	0.18	False		ENSG00000163513	ENSG00000163513	HGNC:11773													
THBD	gene	THBD	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bleeding disorder				28267383;25564403;10627464;32935436;25049278;32634856;27436851		False	3	0;0;0	0.18	False		ENSG00000178726	ENSG00000178726	HGNC:11784													
THPO	gene	THPO	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocythemia 1, MIM# 187950				10583217;9425899		False	3	0;0;0	0.18	False		ENSG00000090534	ENSG00000090534	HGNC:11795													
TMEM127	gene	TMEM127	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Pheochromocytoma, susceptibility to} 171300				34012068		False	3	0;0;0	0.18	False		ENSG00000135956	ENSG00000135956	HGNC:26038													
TMEM38B	gene	TMEM38B	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XIV , MIM#615066				23054245;28323974		False	3	0;0;0	0.18	False		ENSG00000095209	ENSG00000095209	HGNC:25535													
TMEM43	gene	TMEM43	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia 5, MIM# 604400				22725725;21214875;29980933;24598986;18313022;23812740;33831308		False	3	0;0;0	0.18	False		ENSG00000170876	ENSG00000170876	HGNC:28472													
TNNC1	gene	TNNC1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	MONDO:0012745;Cardiomyopathy, dilated, 1Z, MIM# 611879				17977476;33947203;31983221;19808376		False	3	0;0;0	0.18	False		ENSG00000114854	ENSG00000114854	HGNC:11943													
TNNI3	gene	TNNI3	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 1FF, MIM# 613286;Cardiomyopathy, hypertrophic, 7 , MIM#613690;Cardiomyopathy, familial restrictive, MIM#1 115210				2226790;19590045;30681346;31568572;22464770;21846512;15607392;20215591		False	3	0;0;0	0.18	False	Other	ENSG00000129991	ENSG00000129991	HGNC:11947													
TNNI3K	gene	TNNI3K	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117				29355681;30010057		False	3	0;0;0	0.18	False		ENSG00000116783	ENSG00000116783	HGNC:19661													
TNNT2	gene	TNNT2	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, familial restrictive, 3, MIM# 612422;Cardiomyopathy, dilated, 1D, MIM# 601494;Left ventricular noncompaction 6, MIM# 601494;Cardiomyopathy, hypertrophic, 2, MIM# 115195				20031601;33947203;17556660, 30681346;20978592;15542288;11106718		False	3	0;0;0	0.18	False		ENSG00000118194	ENSG00000118194	HGNC:11949													
TNXB	gene	TNXB	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408						False	3	0;0;0	0.18	False		ENSG00000168477	ENSG00000168477	HGNC:11976													
TP53	gene	TP53	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Li-Fraumeni syndrome, MIM# 151623						False	3	0;0;0	0.18	False		ENSG00000141510	ENSG00000141510	HGNC:11998													
TPM1	gene	TPM1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Left ventricular noncompaction 9, MIM# 611878;Cardiomyopathy, hypertrophic, 3, MIM# 115196;Cardiomyopathy, dilated, 1Y, MIM# 611878				11273725;30681346;15249230;31270709;21483645;31983221;23147248;20117437;28600229;20215591		False	3	0;0;0	0.18	False		ENSG00000140416	ENSG00000140416	HGNC:12010													
TPM4	gene	TPM4	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bleeding disorder, platelet-type, 25, MIM# 620486				28134622;21153663;31249973		False	3	0;0;0	0.18	True		ENSG00000167460	ENSG00000167460	HGNC:12013													
TPMT	gene	TPMT	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Thiopurines, poor metabolism of, 1 MIM# 610460						False	3	100;0;0	0.18	False		ENSG00000137364	ENSG00000137364	HGNC:12014													
TRDN	gene	TRDN	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Long QT syndrome;Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441				22422768;31983240;30649896;25922419		False	3	0;0;0	0.18	False		ENSG00000186439	ENSG00000186439	HGNC:12261													
TRIM63	gene	TRIM63	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypertrophic cardiomyopathy, MONDO:0005045				32451364;30681346		False	3	0;0;0	0.18	False		ENSG00000158022	ENSG00000158022	HGNC:16007													
TRPV6	gene	TRPV6	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperparathyroidism, transient neonatal, MIM# 618188				29861107		False	3	0;0;0	0.18	False		ENSG00000165125	ENSG00000165125	HGNC:14006													
TSC1	gene	TSC1	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tuberous sclerosis-1, MIM# 191100						False	3	0;0;0	0.18	False		ENSG00000165699	ENSG00000165699	HGNC:12362													
TSC2	gene	TSC2	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tuberous sclerosis-2, MIM# 613254						False	3	0;0;0	0.18	False		ENSG00000103197	ENSG00000103197	HGNC:12363													
TTN	gene	TTN	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1G, MIM#604145				25589632;28045975;22335739;33947203;34012068		False	3	0;0;0	0.18	False		ENSG00000155657	ENSG00000155657	HGNC:12403													
TTR	gene	TTR	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyloidosis, hereditary, transthyretin-related MIM#105210				28475415;35802134;31554435		False	3	0;0;0	0.18	False		ENSG00000118271	ENSG00000118271	HGNC:12405													
TUBB1	gene	TUBB1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112				31565851;29333906;32757236;18849486		False	3	0;0;0	0.18	False		ENSG00000101162	ENSG00000101162	HGNC:16257													
TULP3	gene	TULP3	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Hepatorenocardiac degenerative fibrosis, MIM# 619902				PMID: 35397207		False	3	0;0;0	0.18	False		ENSG00000078246	ENSG00000078246	HGNC:12425													
UGT1A1	gene	UGT1A1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperbilirubinemia, familial transient neonatal MIM# 237900;Crigler-Najjar syndrome, type I MIM#218800;Crigler-Najjar syndrome, type II MIM#606785						False	3	100;0;0	0.18	True		ENSG00000241635	ENSG00000241635	HGNC:12530													
UQCRFS1	gene	UQCRFS1	Expert Review Green;Literature	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	fetal bradycardia;Mitochondrial Complex III deficiency;hypertrophic cardiomyopathy;lactic acidosis;alopecia totalis				31883641		False	3	0;0;0	0.18	False		ENSG00000169021	ENSG00000169021	HGNC:12587													
VCL	gene	VCL	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1W, MIM# 611407				11815424;26458567;17785437;31983221;32516855;26406308;24062880		False	3	0;0;0	0.18	False		ENSG00000035403	ENSG00000035403	HGNC:12665													
VHL	gene	VHL	Expert Review Green;Melbourne Genomics Health Alliance	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	von Hippel-Lindau syndrome , MIM#193300						False	3	0;0;0	0.18	False		ENSG00000134086	ENSG00000134086	HGNC:12687													
VIPAS39	gene	VIPAS39	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404						False	3	0;0;0	0.18	False		ENSG00000151445	ENSG00000151445	HGNC:20347													
VKORC1	gene	VKORC1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473				14765194		False	3	100;0;0	0.18	False		ENSG00000167397	ENSG00000167397	HGNC:23663													
VPS33B	gene	VPS33B	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085				26399659;16896922		False	3	0;0;0	0.18	False		ENSG00000184056	ENSG00000184056	HGNC:12712													
VWF	gene	VWF	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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						False	3	0;0;0	0.18	False		ENSG00000110799	ENSG00000110799	HGNC:12726													
WAS	gene	WAS	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Wiskott-Aldrich syndrome, MIM# 301000;Thrombocytopenia, X-linked, MIM# 313900						False	3	0;0;0	0.18	False		ENSG00000015285	ENSG00000015285	HGNC:12731													
WFS1	gene	WFS1	Expert Review Green;NHS GMS	Transplant Co-Morbidity Superpanel		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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				27217304;27185633		False	3	0;0;0	0.18	False		ENSG00000109501	ENSG00000109501	HGNC:12762													
WIPF1	gene	WIPF1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Wiskott-Aldrich syndrome 2, MIM# 614493				11869681;14757742;9405671;27742395;22231303		False	3	0;0;0	0.18	False		ENSG00000115935	ENSG00000115935	HGNC:12736													
WNT1	gene	WNT1	Expert Review Green;Victorian Clinical Genetics Services	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XV, MIM# 615220				23499310;23499309;23656646;26671912		False	3	0;0;0	0.18	False		ENSG00000125084	ENSG00000125084	HGNC:12774													
WT1	gene	WT1	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Wilms' tumor MIM#194070				35802134		False	3	0;0;0	0.18	False		ENSG00000184937	ENSG00000184937	HGNC:12796													
XYLT2	gene	XYLT2	Expert list;Expert Review Green	Transplant Co-Morbidity Superpanel		Screening	BIALLELIC, autosomal or pseudoautosomal	Spondyloocular syndrome MIM#605822				26987875;26027496		False	3	0;0;0	0.18	False		ENSG00000015532	ENSG00000015532	HGNC:15517													
