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 A2ML1 gene A2ML1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 24939586;25862627 False 1 0;0;100 1.2304 True ENSG00000166535 ENSG00000166535 HGNC:23336 A4GALT gene A4GALT Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Blood group, P1Pk system, p phenotype], MIM# 111400 False 1 0;0;100 1.2304 True ENSG00000128274 ENSG00000128274 HGNC:18149 AAAS gene AAAS Expert list;Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, MIM#231550 False 1 100;0;0 1.2304 True ENSG00000094914 ENSG00000094914 HGNC:13666 AANAT gene AANAT Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Delayed sleep phase, susceptibility to 12736803 False 1 0;0;100 1.2304 True ENSG00000129673 ENSG00000129673 HGNC:19 ABCB1 gene ABCB1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Inflammatory bowel disease 13} 612244 14610718 False 1 0;0;100 1.2304 True ENSG00000085563 ENSG00000085563 HGNC:40 ABCC11 gene ABCC11 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Axillary odor, variation in] 117800;[Colostrum secretion, variation in] 117800;[Earwax, wet/dry] 117800 False 1 0;0;100 1.2304 True ENSG00000121270 ENSG00000121270 HGNC:14639 ABCG2 gene ABCG2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000118777 ENSG00000118777 HGNC:74 ABO gene ABO Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Blood group, ABO system] MIM#616093 False 1 0;0;100 1.2304 True ENSG00000175164 ENSG00000175164 HGNC:79 ACAD11 gene ACAD11 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000240303 ENSG00000240303 HGNC:30211 ACADL gene ACADL Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Hereditary pulmonary alveoral proteinosis, MONDO:0012580, ACADL-related 24591516;31399326 False 1 0;0;100 1.2304 True ENSG00000115361 ENSG00000115361 HGNC:88 ACHE gene ACHE Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Blood group, Yt system] MIM#112100 PMID: 12783426;8488842 False 1 0;0;100 1.2304 True ENSG00000087085 ENSG00000087085 HGNC:108 ACKR1 gene ACKR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Blood group, Duffy system MIM#110700 False 1 0;0;100 1.2304 True ENSG00000213088 ENSG00000213088 HGNC:4035 ACP2 gene ACP2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Lysosomal acid phosphatase deficiency, MIM# 200950 5410815 False 1 0;0;100 1.2304 True ENSG00000134575 ENSG00000134575 HGNC:123 ACSL5 gene ACSL5 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Diarrhoea 13, MIM# 620357" 33191500 False 1 0;0;100 1.2304 True ENSG00000197142 ENSG00000197142 HGNC:16526 ACVR2B gene ACVR2B Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 4, autosomal 613751 9916847;30622330;21864452 False 1 0;0;100 1.2304 True ENSG00000114739 ENSG00000114739 HGNC:174 ADAMTS1 gene ADAMTS1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related 34135477 False 1 0;0;100 1.2304 True ENSG00000154734 ENSG00000154734 HGNC:217 ADCY1 gene ADCY1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 44, MIM# 610154 24482543 False 1 0;0;100 1.2304 True ENSG00000164742 ENSG00000164742 HGNC:232 ADCY8 gene ADCY8 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;0 1.2304 True ENSG00000155897 ENSG00000155897 HGNC:239 ADGRA3 gene ADGRA3 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, ADGRA3-related 23105016 False 1 0;0;100 1.2304 True ENSG00000152990 ENSG00000152990 HGNC:13839 ADH1B gene ADH1B Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780;{Alcohol dependence, protection against} MIM#103780 False 1 0;0;100 1.2304 True ENSG00000196616 ENSG00000196616 HGNC:250 ADIPOQ gene ADIPOQ Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Adiponectin deficiency MIM#612556 10918532;32685557;33075772;30574262 False 1 0;0;100 1.2304 True ENSG00000181092 ENSG00000181092 HGNC:13633 ADRA2B gene ADRA2B Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 31664034;24114805;21937992 False 1 0;0;100 1.2304 True ENSG00000222040 ENSG00000274286 HGNC:282 ADRB1 gene ADRB1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown [Resting heart rate] MIM#607276;[Short sleep, familial natural, 2] MIM#618591 PMID: 31473062;34716504 False 1 0;0;100 1.2304 True ENSG00000043591 ENSG00000043591 HGNC:285 ADRB2 gene ADRB2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Beta-2-adrenoreceptor agonist, reduced response to;{Asthma, nocturnal, susceptibility to} MIM#600807;{Obesity, susceptibility to} MIM#601665 PMID: 15724149 False 1 0;0;100 1.2304 True ENSG00000169252 ENSG00000169252 HGNC:286 AFDN gene AFDN Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft lip/palate, MONDO:0016044, AFDN-related 36384317 False 1 0;0;100 1.2304 True ENSG00000130396 ENSG00000130396 HGNC:7137 AGBL1 gene AGBL1 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Corneal dystrophy, Fuchs endothelial, 8, MIM# 615523" 24094747;31555324 False 1 0;0;100 1.2304 True ENSG00000166748 ENSG00000273540 HGNC:26504 AGGF1 gene AGGF1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000164252 ENSG00000164252 HGNC:24684 AGO3 gene AGO3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, AGO3-related 25271087 False 1 0;0;100 1.2304 True ENSG00000126070 ENSG00000126070 HGNC:18421 AGRP gene AGRP Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Leanness, inherited} 601665;{Obesity, late-onset} 601665 False 1 0;0;100 1.2304 True ENSG00000159723 ENSG00000159723 HGNC:330 AGTR2 gene AGTR2 Expert Review;Expert Review Red Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked complex neurodevelopmental disorder MONDO:0100148 False 1 0;0;100 1.2304 True ENSG00000180772 ENSG00000180772 HGNC:338 AHSG gene AHSG Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal ?Alopecia-intellectual disability syndrome 1 MIM#203650;infantile cortical hyperostosis PMID: 28054173;9395485;31288248;17389622 False 1 0;0;100 1.2304 True ENSG00000145192 ENSG00000145192 HGNC:349 AIMP2 gene AIMP2 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 17 618006" 29215095 False 1 0;0;100 1.2304 True ENSG00000106305 ENSG00000106305 HGNC:20609 AKAP10 gene AKAP10 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Cardiac conduction defect, susceptibility to} MIM#115080;sudden cardiac arrest MONDO:0007264 12646697;17485678 False 1 0;0;100 1.2304 True ENSG00000108599 ENSG00000108599 HGNC:368 AKNA gene AKNA Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia, MONDO:0016575, AKNA-related PMID: 21606955 False 1 0;0;100 1.2304 True ENSG00000106948 ENSG00000106948 HGNC:24108 AKR1C2 gene AKR1C2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal 46XY sex reversal 8, MIM# 614279;Obesity 21802064;25322899;33675863 False 1 0;0;100 1.2304 True ENSG00000151632 ENSG00000151632 HGNC:385 AKR1C4 gene AKR1C4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal {46XY sex reversal 8, modifier of}, MIM# 614279 21802064 False 1 0;0;100 1.2304 True ENSG00000198610 ENSG00000198610 HGNC:387 AKR1E2 gene AKR1E2 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Cataract, MONDO:0005129, AKR1E2-related 26622071 False 1 0;0;100 1.2304 True ENSG00000165568 ENSG00000165568 HGNC:23437 ALDH1L2 gene ALDH1L2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks PMID: 31341639;33168096 False 1 0;0;100 1.2304 True ENSG00000136010 ENSG00000136010 HGNC:26777 ALDH2 gene ALDH2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 31368097 False 1 0;0;100 1.2304 True ENSG00000111275 ENSG00000111275 HGNC:404 ALG10 gene ALG10 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, ALG10-related 33798445 False 1 0;0;100 1.2304 True ENSG00000139133 ENSG00000139133 HGNC:23162 ALOX12 gene ALOX12 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000108839 ENSG00000108839 HGNC:429 ALOX5AP gene ALOX5AP Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000132965 ENSG00000132965 HGNC:436 AMPD1 gene AMPD1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Myopathy due to myoadenylate deaminase deficiency (MIM#615511) 21343608;27296017 False 1 0;0;100 1.2304 True ENSG00000116748 ENSG00000116748 HGNC:468 AMPD3 gene AMPD3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal [AMP deaminase deficiency, erythrocytic] MIM#612874 8004104;11139257;24940686 False 1 0;50;50 1.2304 True ENSG00000133805 ENSG00000133805 HGNC:470 AMTN gene AMTN Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amelogenesis imperfecta, type IIIB 27412008;25715379;26620968 False 1 0;0;100 1.2304 True Other ENSG00000187689 ENSG00000187689 HGNC:33188 ANGPTL8 gene ANGPTL8 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Low serum triglycerides;Coronary artery disease PMID: 33909604 False 1 0;0;100 1.2304 True ENSG00000130173 ENSG00000130173 HGNC:24933 ANKRD1 gene ANKRD1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy;Dilated cardiomyopathy 19608030;19525294;30681346 False 1 0;0;100 1.2304 True ENSG00000148677 ENSG00000148677 HGNC:15819 ANKRD24 gene ANKRD24 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related PMID: 39434538 False 1 0;0;100 1.2304 True ENSG00000089847 ENSG00000089847 HGNC:29424 APOA2 gene APOA2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Apolipoprotein A-II deficiency;{Hypercholesterolemia, familial, modifier of} MIM#143890 PMID: 12522687;2107739;25904114 False 1 0;0;100 1.2304 True ENSG00000158874 ENSG00000158874 HGNC:601 APOC3 gene APOC3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Apolipoprotein C-III deficiency MIM#614028 PMID: 19074352 False 1 0;0;100 1.2304 True ENSG00000110245 ENSG00000110245 HGNC:610 APOC4-APOC2 gene APOC4-APOC2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown PMID: 31034468 False 1 0;0;100 1.2304 True ENSG00000224916 ENSG00000224916 HGNC:44426 APPL1 gene APPL1 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type 14 MIM#616511 26073777;36208030 False 1 0;0;100 1.2304 True ENSG00000157500 ENSG00000157500 HGNC:24035 ARHGAP24 gene ARHGAP24 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FSGS, MONDO:0005363, ARHGAP24-related 21911940 False 1 0;0;100 1.2304 True ENSG00000138639 ENSG00000138639 HGNC:25361 ARHGAP26 gene ARHGAP26 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000145819 ENSG00000145819 HGNC:17073 ARHGAP42 gene ARHGAP42 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease;systemic hypertension;immunological abnormalities 34232960 False 1 0;0;100 1.2304 True ENSG00000165895 ENSG00000165895 HGNC:26545 ARHGEF15 gene ARHGEF15 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000198844 ENSG00000198844 HGNC:15590 ARHGEF6 gene ARHGEF6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 46 11017088 False 1 0;0;100 1.2304 True ENSG00000129675 ENSG00000129675 HGNC:685 ARID5B gene ARID5B Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000150347 ENSG00000150347 HGNC:17362 ARL11 gene ARL11 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 1.2304 True ENSG00000152213 ENSG00000152213 HGNC:24046 ARL2 gene ARL2 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082 30945270 False 1 0;0;100 1.2304 True ENSG00000213465 ENSG00000213465 HGNC:693 ARL6IP6 gene ARL6IP6 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Cutis marmorata telangiectatica congenita 31142202 False 1 0;0;100 1.2304 True ENSG00000177917 ENSG00000177917 HGNC:24048 ARMC1 gene ARMC1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000104442 ENSG00000104442 HGNC:17684 ARMC8 gene ARMC8 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000114098 ENSG00000114098 HGNC:24999 ARMS2 gene ARMS2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Macular degeneration, age-related, 8} MIM#613778 False 1 0;0;100 1.2304 True ENSG00000254636 ENSG00000254636 HGNC:32685 ASB10 gene ASB10 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glaucoma 1, open angle, F MIM#603383 PMID: 26713451;22156576 False 1 0;0;100 1.2304 True ENSG00000146926 ENSG00000146926 HGNC:17185 ASIP gene ASIP Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000101440 ENSG00000101440 HGNC:745 ASMT gene ASMT Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 21251267 False 1 0;0;100 1.2304 True ENSG00000196433 ENSG00000196433 HGNC:750 ASNA1 gene ASNA1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0001644, ASNA1-related 31461301;16797549 False 1 0;0;100 1.2304 True ENSG00000198356 ENSG00000198356 HGNC:752 ASPN gene ASPN Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Lumbar disc degeneration} MIM#603932;{Osteoarthritis susceptibility 3} MIM#607850 25689697 False 1 0;0;100 1.2304 True ENSG00000106819 ENSG00000106819 HGNC:14872 ASTE1 gene ASTE1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted palmar and plantar fibromatosis 29104234 False 1 0;0;100 1.2304 True ENSG00000034533 ENSG00000034533 HGNC:25021 ASTL gene ASTL Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Oocyte maturation defect 11, MIM# 619643" 34704130 False 1 0;0;100 1.2304 True ENSG00000188886 ENSG00000188886 HGNC:31704 ATF1 gene ATF1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000123268 ENSG00000123268 HGNC:783 ATF3 gene ATF3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000162772 ENSG00000162772 HGNC:785 ATG16L1 gene ATG16L1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Inflammatory bowel disease (Crohn disease) 10} MIM#611081 PMID: 20602997 False 1 0;0;100 1.2304 True ENSG00000085978 ENSG00000085978 HGNC:21498 ATG4A gene ATG4A Expert list;Expert Review Red Mendeliome X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) infectious meningitis MONDO:0004796 33310865 False 1 0;0;100 1.2304 True ENSG00000101844 ENSG00000101844 HGNC:16489 ATG9A gene ATG9A Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Autophagy-associated immune dysregulation and hyperplasia 35838483 False 1 0;0;100 1.2304 True ENSG00000198925 ENSG00000198925 HGNC:22408 ATP1A4 gene ATP1A4 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemiplegic migraine 32549268 False 1 0;0;100 1.2304 True ENSG00000132681 ENSG00000132681 HGNC:14073 ATP2C2 gene ATP2C2 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown language impairment, HP:0002463 33864365;28440294 False 1 0;0;100 1.2304 True ENSG00000064270 ENSG00000064270 HGNC:29103 ATP5F1 gene ATP5F1 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 36239646 False 1 0;0;100 1.2304 True ENSG00000116459 ENSG00000116459 HGNC:840 ATP6V1C1 gene ATP6V1C1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related 39210597 False 1 0;100;0 1.2304 True ENSG00000155097 ENSG00000155097 HGNC:856 ATP6V1C2 gene ATP6V1C2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 31959358 False 1 0;0;100 1.2304 True ENSG00000143882 ENSG00000143882 HGNC:18264 ATPAF2 gene ATPAF2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 1.2304 True ENSG00000171953 ENSG00000171953 HGNC:18802 ATRIP gene ATRIP Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Seckel Syndrome, MONDO:0019342, ATRIP-related 23144622 False 1 0;0;100 1.2304 True ENSG00000164053 ENSG00000164053 HGNC:33499 AVPR1A gene AVPR1A Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism spectrum disorder MONDO:0005258 24924430 False 1 0;0;100 1.2304 True ENSG00000166148 ENSG00000166148 HGNC:895 AXL gene AXL Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kallman syndrome, MONDO:0018800, AXL-related;normosmic idiopathic hypogonadotropic hypogonadism 18787040;24476074 False 1 0;50;50 1.2304 True ENSG00000167601 ENSG00000167601 HGNC:905 B3GALNT1 gene B3GALNT1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Blood group, globoside system MIM#615021 False 1 0;0;100 1.2304 True ENSG00000169255 ENSG00000169255 HGNC:918 BCAM gene BCAM Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000187244 ENSG00000187244 HGNC:6722 BCL2 gene BCL2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000171791 ENSG00000171791 HGNC:990 BCLAF1 gene BCLAF1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000029363 ENSG00000029363 HGNC:16863 BCO1 gene BCO1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000135697 ENSG00000135697 HGNC:13815 BCR gene BCR Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic 613065;Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic 608232 False 1 0;0;100 1.2304 True ENSG00000186716 ENSG00000186716 HGNC:1014 BDNF gene BDNF Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000176697 ENSG00000176697 HGNC:1033 BDP1 gene BDP1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 112, MIM#618257 24312468 25060281 False 1 0;0;100 1.2304 True ENSG00000145734 ENSG00000145734 HGNC:13652 BHLHE41 gene BHLHE41 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [Short sleep, familial natural, 1] 612975 False 1 0;0;100 1.2304 True ENSG00000123095 ENSG00000123095 HGNC:16617 BICC1 gene BICC1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Renal dysplasia, cystic, susceptibility to};OMIM #601331 21922595 False 1 0;0;100 1.2304 True ENSG00000122870 ENSG00000122870 HGNC:19351 BMP5 gene BMP5 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia, MONDO:0018230, BMP5-related;Skeletal dysostosis and atrioventricular septal defect, no OMIM# 39239663 False 1 0;0;100 1.2304 True ENSG00000112175 ENSG00000112175 HGNC:1072 BMP7 gene BMP7 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Non-syndromic metopic craniosynostosis;Congenital abnormalities of the kidneys and urinary tract;Mayer-Rokitansky-K ster-Hauser syndrome (MRKHS) 32266521;24429398;33434492 False 1 0;0;100 1.2304 True Other ENSG00000101144 ENSG00000101144 HGNC:1074 BRAP gene BRAP Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension 30703135 False 1 0;0;100 1.2304 True ENSG00000089234 ENSG00000089234 HGNC:1099 BRWD1 gene BRWD1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 51, MIM# 620438 33389130 False 1 50;0;50 1.2304 True ENSG00000185658 ENSG00000185658 HGNC:12760 BSG gene BSG Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Blood group, OK] MIM#111380 False 1 0;0;100 1.2304 True ENSG00000172270 ENSG00000172270 HGNC:1116 BTBD7 gene BTBD7 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000011114 ENSG00000011114 HGNC:18269 BTNL2 gene BTNL2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Sarcoidosis, susceptibility to, 2} 612387 False 1 0;0;100 1.2304 True ENSG00000204290 ENSG00000204290 HGNC:1142 BUD23 gene BUD23 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000071462 ENSG00000071462 HGNC:16405 C18orf32 gene C18orf32 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), C18orf32-related PMID:35107634 False 1 0;0;100 1.2304 True ENSG00000177576 ENSG00000177576 HGNC:31690 C20orf24 gene C20orf24 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# 616994" 35614220;24194475 False 1 0;0;100 1.2304 True ENSG00000101084 ENSG00000101084 HGNC:15870 C3orf58 gene C3orf58 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000181744 ENSG00000181744 HGNC:28490 C8G gene C8G Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000176919 ENSG00000176919 HGNC:1354 CA4 gene CA4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 17, MIM# 600852 15563508;15090652;17652713;16260723 False 1 0;0;100 1.2304 True ENSG00000167434 ENSG00000167434 HGNC:1375 CACNA2D3 gene CACNA2D3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 31275518;22542183;23375656 False 1 0;0;100 1.2304 True ENSG00000157445 ENSG00000157445 HGNC:15460 CACNB1 gene CACNB1 Expert list;Expert Review Red;Other;Royal Melbourne Hospital Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related 27832566;8943043;29212769 False 1 0;0;100 1.2304 True ENSG00000067191 ENSG00000067191 HGNC:1401 CACNG2 gene CACNG2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Mental retardation, autosomal dominant 10, MIM#614256 21376300 False 1 0;0;100 1.2304 True ENSG00000166862 ENSG00000166862 HGNC:1406 CALCRL gene CALCRL Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal ?Lymphatic malformation 8 (MIM# 618773);hydrops fetalis PMID: 30115739 False 1 0;0;100 1.2304 True ENSG00000064989 ENSG00000064989 HGNC:16709 CALR3 gene CALR3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy 29988065 False 1 0;0;100 1.2304 True ENSG00000269058 ENSG00000269058 HGNC:20407 CALU gene CALU Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000128595 ENSG00000128595 HGNC:1458 CAMLG gene CAMLG Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIz, OMIM# 620201 PMID: 35262690 False 1 0;0;100 1.2304 True ENSG00000164615 ENSG00000164615 HGNC:1471 CAPN10 gene CAPN10 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown "{Diabetes mellitus, noninsulin-dependent 1} 601283" 31791003;31292430 False 1 0;0;100 1.2304 True ENSG00000142330 ENSG00000142330 HGNC:1477 CARD10 gene CARD10 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 89 and autoimmunity, MIM# 619632" 32238915 False 1 0;0;100 1.2304 True ENSG00000100065 ENSG00000100065 HGNC:16422 CASP4 gene CASP4 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infection, MONDO:0015979, CASP4-related;Susceptibility to meliodiosis 37647624 False 1 0;0;100 1.2304 True ENSG00000196954 ENSG00000196954 HGNC:1505 CATIP gene CATIP Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Spermatogenic failure 54, MIM# 619379" 32503832 False 1 0;0;100 1.2304 True ENSG00000158428 ENSG00000158428 HGNC:25062 CBWD1 gene CBWD1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal CAKUT 31862704 False 1 0;0;100 1.2304 True ENSG00000172785 ENSG00000172785 HGNC:17134 CBX2 gene CBX2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal 46XY sex reversal 5, MIM# 613080 19361780;31719618;23219007 False 1 0;0;100 1.2304 True ENSG00000173894 ENSG00000173894 HGNC:1552 CCDC186 gene CCDC186 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy 33259146 False 1 0;0;100 1.2304 True ENSG00000165813 ENSG00000165813 HGNC:24349 CCDC62 gene CCDC62 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Spermatogenic failure 67, MIM# 619803" 31985809;28339613 False 1 0;0;100 1.2304 True ENSG00000130783 ENSG00000130783 HGNC:30723 CCDC66 gene CCDC66 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myopia MONDO:0001384, CCDC66-related PMID: 37852749 False 1 0;0;100 1.2304 True ENSG00000180376 ENSG00000180376 HGNC:27709 CCL2 gene CCL2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {HIV-1, resistance to} MIM#609423;{Mycobacterium tuberculosis, susceptibility to} MIM#607948;{Spina bifida, susceptibility to} MIM#182940 False 1 0;0;100 1.2304 True ENSG00000108691 ENSG00000108691 HGNC:10618 CCND1 gene CCND1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Colorectal cancer, susceptibility to} MIM#114500;{Multiple myeloma, susceptibility to} MIM#254500;{von Hippel-Lindau syndrome, modifier of} MIM#193300 12097293;23502783;21131975;14657069;23540573;20633772 False 1 0;0;100 1.2304 True ENSG00000110092 ENSG00000110092 HGNC:1582 CCT2 gene CCT2 Expert Review Red;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Leber's congenital amaurosis 27645772;29450543 False 1 0;0;100 1.2304 True ENSG00000166226 ENSG00000166226 HGNC:1615 CD207 gene CD207 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birbeck granule deficiency, MIM# 613393 15816828 False 1 0;0;100 1.2304 True ENSG00000116031 ENSG00000116031 HGNC:17935 CD209 gene CD209 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Dengue fever, protection against} MIM#614371;{HIV type 1, susceptibility to} MIM#609423;{Mycobacterium tuberculosis, susceptibility to} MIM#607948 False 1 0;0;100 1.2304 True ENSG00000090659 ENSG00000090659 HGNC:1641 CD44 gene CD44 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Blood group, Indian system] 609027 False 1 0;0;100 1.2304 True ENSG00000026508 ENSG00000026508 HGNC:1681 CDC40 gene CDC40 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 15, MIM# 619302;microcephaly;seizures" 33220177 False 1 0;0;100 1.2304 True ENSG00000168438 ENSG00000168438 HGNC:17350 CDC6 gene CDC6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 5 (MIM#613805) 21358632 False 1 0;0;100 1.2304 True ENSG00000094804 ENSG00000094804 HGNC:1744 CDH15 gene CDH15 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 3, MIM#612580 19012874;12052883;28422132;26506440 False 1 0;0;100 1.2304 True ENSG00000129910 ENSG00000129910 HGNC:1754 CDH4 gene CDH4 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted coloboma MONDO#0001476, CDH4-related 35034853 False 1 0;0;100 1.2304 True ENSG00000179242 ENSG00000179242 HGNC:1763 CDK4 gene CDK4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Melanoma, cutaneous malignant, 3} MIM#609048 False 1 0;0;100 1.2304 True ENSG00000135446 ENSG00000135446 HGNC:1773 CDK5R1 gene CDK5R1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CDK5R1-related 30733659 False 1 0;0;100 1.2304 True ENSG00000176749 ENSG00000176749 HGNC:1775 CDKAL1 gene CDKAL1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000145996 ENSG00000145996 HGNC:21050 CENPE gene CENPE Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Microcephaly 13, primary, autosomal recessive (MIM#616051) 24748105;30086807 False 1 0;0;100 1.2304 True ENSG00000138778 ENSG00000138778 HGNC:1856 CENPP gene CENPP Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant nonsyndromic hearing loss;MONDO:0019587 36071244 False 1 0;0;100 1.2304 True ENSG00000188312 ENSG00000188312 HGNC:32933 CEP192 gene CEP192 Expert Review Red;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal microcephaly, short stature, limb-extremity dysplasia, and reduced testicular size 37981762 False 1 0;0;100 1.2304 True ENSG00000101639 ENSG00000101639 HGNC:25515 CFAP221 gene CFAP221 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 31636325 False 1 0;0;100 1.2304 True ENSG00000163075 ENSG00000163075 HGNC:33720 CFHR4 gene CFHR4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000134365 ENSG00000134365 HGNC:16979 CHD1L gene CHD1L Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 22146311;24429398 False 1 0;0;100 1.2304 True ENSG00000131778 ENSG00000131778 HGNC:1916 CHI3L1 gene CHI3L1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Asthma-related traits, susceptibility to, 7} 611960;{Schizophrenia, susceptibility to} 181500 False 1 0;0;100 1.2304 True ENSG00000133048 ENSG00000133048 HGNC:1932 CHIT1 gene CHIT1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Chitotriosidase deficiency] MIM#614122 23430794 False 1 0;0;100 1.2304 True ENSG00000133063 ENSG00000133063 HGNC:1936 CHRM2 gene CHRM2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related 23743182;18451336 False 1 0;0;100 1.2304 True ENSG00000181072 ENSG00000181072 HGNC:1951 CHRM5 gene CHRM5 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related 37213061 False 1 0;0;100 1.2304 True ENSG00000184984 ENSG00000184984 HGNC:1954 CHRNA5 gene CHRNA5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Lung cancer susceptibility 2 (MIM#612052);Nicotine dependence, susceptibility to (MIM#612052) False 1 0;0;100 1.2304 True ENSG00000169684 ENSG00000169684 HGNC:1959 CHRNA7 gene CHRNA7 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal intellectual disability;seizures;hypotonia 20979196;21596161;21290787 False 1 0;0;100 1.2304 True ENSG00000175344 ENSG00000175344 HGNC:1960 CHST8 gene CHST8 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome, MONDO:0019347, CHST8-realted 22289416;28204496 False 1 0;0;100 1.2304 True ENSG00000124302 ENSG00000124302 HGNC:15993 CIDEC gene CIDEC Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, familial partial, type 5, MIM# 615238 20049731 False 1 0;0;100 1.2304 True ENSG00000187288 ENSG00000187288 HGNC:24229 CILP gene CILP Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000138615 ENSG00000138615 HGNC:1980 CISH gene CISH Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000114737 ENSG00000114737 HGNC:1984 CLASP1 gene CLASP1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, CLASP1-related 39040917 False 1 0;0;100 1.2304 True ENSG00000074054 ENSG00000074054 HGNC:17088 CLDN2 gene CLDN2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Susceptibility to pancreatitis;Azoospermia, obstructive, with nephrolithiasis, MIM# 301060" 29884332;31163246;31320686 False 1 0;0;100 1.2304 True ENSG00000165376 ENSG00000165376 HGNC:2041 CLEC7A gene CLEC7A Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Aspergillosis, susceptibility to} MIM#614079;candidiasis, familial, 4, autosomal recessive MIM#613108 19864674;20807886 False 1 0;0;100 1.2304 True ENSG00000172243 ENSG00000172243 HGNC:14558 CLIC2 gene CLIC2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 32, 300886 22814392;25927380 False 1 0;0;100 1.2304 True ENSG00000155962 ENSG00000155962 HGNC:2063 CMAS gene CMAS Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CMAS-related 31495922 False 1 0;0;100 1.2304 True ENSG00000111726 ENSG00000111726 HGNC:18290 CNGA2 gene CNGA2 Expert Review Red;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital anosmia 28572688 False 1 0;0;100 1.2304 True ENSG00000183862 ENSG00000183862 HGNC:2149 CNRIP1 gene CNRIP1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Deafness, autosomal dominant 58 MIM#615654" 32337552;19159392 False 1 0;0;100 1.2304 True ENSG00000119865 ENSG00000119865 HGNC:24546 CNTN3 gene CNTN3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CNTN3-related 28600779 False 1 0;0;100 1.2304 True ENSG00000113805 ENSG00000113805 HGNC:2173 CNTN4 gene CNTN4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000144619 ENSG00000144619 HGNC:2174 CNTN6 gene CNTN6 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CNTN6-related 30836150;28641109;29983269 False 1 0;0;100 1.2304 True ENSG00000134115 ENSG00000134115 HGNC:2176 COA3 gene COA3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 14, MIM# 619058 25604084 False 1 0;0;100 1.2304 True ENSG00000183978 ENSG00000183978 HGNC:24990 COA5 gene COA5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500 21457908 False 1 0;0;100 1.2304 True ENSG00000183513 ENSG00000183513 HGNC:33848 COG2 gene COG2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIq (MIM# 617395) 24784932 False 1 0;0;100 1.2304 True ENSG00000135775 ENSG00000135775 HGNC:6546 COL14A1 gene COL14A1 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Punctate palmoplantar keratoderma type 1B 22972947 False 1 0;0;100 1.2304 True ENSG00000187955 ENSG00000187955 HGNC:2191 COMT gene COMT Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000093010 ENSG00000093010 HGNC:2228 COQ5 gene COQ5 Expert list;Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 9, MIM#619028;Cerebellar ataxia;encephalopathy;generalized tonic-clonic seizures;intellectual disability 29044765 False 1 0;0;100 1.2304 True ENSG00000110871 ENSG00000110871 HGNC:28722 CORIN gene CORIN Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Preeclampsia/eclampsia 5 MIM#614595;Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) 22437503;37913506;15637153 False 1 0;0;100 1.2304 True ENSG00000145244 ENSG00000145244 HGNC:19012 COX18 gene COX18 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), COX18-related PMID:37468577 False 1 0;0;100 1.2304 True ENSG00000163626 ENSG00000163626 HGNC:26801 COX4I2 gene COX4I2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 19268275;22730437 False 1 0;0;100 1.2304 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX8A gene COX8A Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059 26685157 False 1 0;0;100 1.2304 True ENSG00000176340 ENSG00000176340 HGNC:2294 CPA6 gene CPA6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5, MIM#614417;Febrile seizures, familial, 11, MIM#614418 25875328;21922598;23105115 False 1 0;100;0 1.2304 True ENSG00000165078 ENSG00000165078 HGNC:17245 CPN1 gene CPN1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Carboxypeptidase N deficiency MIM#212070 12560874;7437116 False 1 0;0;100 1.2304 True ENSG00000120054 ENSG00000120054 HGNC:2312 CPT1B gene CPT1B Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 18023382 False 1 0;0;100 1.2304 True ENSG00000205560 ENSG00000205560 HGNC:2329 CR1 gene CR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000203710 ENSG00000203710 HGNC:2334 CRACR2A gene CRACR2A Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated;Late onset combined immunodeficiency PMID:34908525 False 1 0;100;0 1.2304 True ENSG00000130038 ENSG00000130038 HGNC:28657 CREB1 gene CREB1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agenesis of corpus callosum, MONDO:0009022 22267179 False 1 0;0;100 1.2304 True ENSG00000118260 ENSG00000118260 HGNC:2345 CRYGA gene CRYGA Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 30450742;28839118 False 1 0;0;100 1.2304 True ENSG00000168582 ENSG00000168582 HGNC:2408 CRYGB gene CRYGB Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 39, multiple types, autosomal dominant MIM#615188 23288985 False 1 0;0;100 1.2304 True ENSG00000182187 ENSG00000182187 HGNC:2409 CRYL1 gene CRYL1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;50;50 1.2304 True ENSG00000165475 ENSG00000165475 HGNC:18246 CSNK1E gene CSNK1E Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related 30488659 False 1 0;0;100 1.2304 True ENSG00000213923 ENSG00000213923 HGNC:2453 CTHRC1 gene CTHRC1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Barrett esophagus/esophageal adenocarcinoma MIM#614266 21791690 False 1 0;0;100 1.2304 True ENSG00000164932 ENSG00000164932 HGNC:18831 CTSB gene CTSB Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratolytic winter erythema, MIM# 148370 28457472 False 1 0;0;100 1.2304 True ENSG00000164733 ENSG00000164733 HGNC:2527 CWH43 gene CWH43 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hydrocephalus MONDO:0001150, CWH43-related PMID: 33459505;34380733 False 1 0;50;50 1.2304 True ENSG00000109182 ENSG00000109182 HGNC:26133 CX3CR1 gene CX3CR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Coronary artery disease, resistance to}, MIM# 607339;{Macular degeneration, age-related, 12} 613784;{Rapid progression to AIDS from HIV1 infection} 609423 False 1 0;0;100 1.2304 True ENSG00000168329 ENSG00000168329 HGNC:2558 CYBRD1 gene CYBRD1 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Iron metabolism disease, MONDO:0002279, CYBRD1-related 15338274 False 1 0;0;100 1.2304 True ENSG00000071967 ENSG00000071967 HGNC:20797 CYP1A2 gene CYP1A2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000140505 ENSG00000140505 HGNC:2596 CYP2A6 gene CYP2A6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Coumarin resistance MIM#122700 False 1 0;0;100 1.2304 True ENSG00000255974 ENSG00000255974 HGNC:2610 CYP2A7 gene CYP2A7 Literature Mendeliome Other Syndromic disease, MONDO:0002254 41233206 False 1 0;0;100 1.2304 False ENSG00000198077 ENSG00000198077 HGNC:2611 CYP2B6 gene CYP2B6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Efavirenz, poor metabolism of MIM#614546 False 1 0;0;100 1.2304 True ENSG00000197408 ENSG00000197408 HGNC:2615 CYP2C19 gene CYP2C19 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Other Voriconazole 27981572;26616742;31549386;31549389 False 1 0;0;100 1.2304 True ENSG00000165841 ENSG00000165841 HGNC:2621 CYP2C8 gene CYP2C8 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Drug metabolism, altered, CYP2C8-related} 618018 False 1 0;0;100 1.2304 True ENSG00000138115 ENSG00000138115 HGNC:2622 CYP2D6 gene CYP2D6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Codeine sensitivity} MIM#608902;{Debrisoquine sensitivity} MIM#608902 18406467;24458010 False 1 0;0;100 1.2304 True ENSG00000100197 ENSG00000100197 HGNC:2625 DAB1 gene DAB1 Expert list;Expert Review Red;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 37 MIM#615945;Ataxia and intellectual disability 28686858;33928188 False 1 50;0;50 1.2304 True ENSG00000173406 ENSG00000173406 HGNC:2661 DACH2 gene DACH2 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian failure, MONDO:0005387, DACH2-related 15459172 False 1 0;0;100 1.2304 True ENSG00000126733 ENSG00000126733 HGNC:16814 DAZ1 gene DAZ1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000188120 ENSG00000188120 HGNC:2682 DAZ2 gene DAZ2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000205944 ENSG00000205944 HGNC:15964 DAZ3 gene DAZ3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000187191 ENSG00000187191 HGNC:15965 DAZ4 gene DAZ4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000205916 ENSG00000205916 HGNC:15966 DCAF13 gene DCAF13 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neuromuscular disease (MONDO#0019056), DCAF13-related 36797467 False 1 0;0;100 1.2304 True ENSG00000164934 ENSG00000164934 HGNC:24535 DDIT3 gene DDIT3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000175197 ENSG00000175197 HGNC:2726 DDX54 gene DDX54 Expert Review Red;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, DDX54-related 31256877 False 1 0;0;100 1.2304 True ENSG00000123064 ENSG00000123064 HGNC:20084 DECR1 gene DECR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000104325 ENSG00000104325 HGNC:2753 DGCR8 gene DGCR8 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early-onset multinodular goiter and schwannomatosis 31805011 False 1 0;50;50 1.2304 True ENSG00000128191 ENSG00000128191 HGNC:2847 DHX34 gene DHX34 Expert Review Red;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability;congenital anomalies 31256877 False 1 0;0;100 1.2304 True ENSG00000134815 ENSG00000134815 HGNC:16719 DIABLO gene DIABLO Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 64, MIM# 614152 21722859;10929711 False 1 0;0;100 1.2304 True ENSG00000184047 ENSG00000184047 HGNC:21528 DIAPH2 gene DIAPH2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000147202 ENSG00000147202 HGNC:2877 DIAPH3 gene DIAPH3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Auditory neuropathy, autosomal dominant, 1, MIM#609129 23441200;20624953 False 1 0;0;100 1.2304 True ENSG00000139734 ENSG00000139734 HGNC:15480 DISC1 gene DISC1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Schizophrenia 9, susceptibility to} MIM#604906 18945897 False 1 0;0;100 1.2304 True ENSG00000162946 ENSG00000162946 HGNC:2888 DLEC1 gene DLEC1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000008226 ENSG00000008226 HGNC:2899 DLG1 gene DLG1 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Non-syndromic cleft lip and palate 28926086 False 1 0;0;100 1.2304 True ENSG00000075711 ENSG00000075711 HGNC:2900 DLX4 gene DLX4 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Orofacial cleft 15, MIM# 616788" 25954033;29738288 False 1 0;0;100 1.2304 True ENSG00000108813 ENSG00000108813 HGNC:2917 DNAH14 gene DNAH14 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), DNAH14-related PMID: 35438214 False 1 100;0;0 1.2304 True ENSG00000185842 ENSG00000185842 HGNC:2945 DNAJA1 gene DNAJA1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability;seizures 30972502 False 1 0;0;100 1.2304 True ENSG00000086061 ENSG00000086061 HGNC:5229 DNASE1 gene DNASE1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Systemic lupus erythematosus, susceptibility to} - MIM#152700 False 1 0;0;100 1.2304 True ENSG00000213918 ENSG00000213918 HGNC:2956 DPP10 gene DPP10 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000175497 ENSG00000175497 HGNC:20823 DPP6 gene DPP6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 33 (MIM#616311) 23832105 False 1 0;50;50 1.2304 True ENSG00000130226 ENSG00000130226 HGNC:3010 DRD2 gene DRD2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Combined dystonia, MONDO:0020065, DRD2-related;dystonia;chorea;anxiety;ataxia;orofacial dyskinesia;tremor;memory problems False 1 0;0;100 1.2304 True Other ENSG00000149295 ENSG00000149295 HGNC:3023 DRD3 gene DRD3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Essential tremor, hereditary, 1} - MIM#190300;{Schizophrenia, susceptibility to} - MIM#181500 False 1 0;0;100 1.2304 True ENSG00000151577 ENSG00000151577 HGNC:3024 DRD5 gene DRD5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000169676 ENSG00000169676 HGNC:3026 DSCR3 gene DSCR3 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), DSCR3-related 31845315 False 1 0;0;100 1.2304 True ENSG00000157538 ENSG00000157538 HGNC:3044 DSG3 gene DSG3 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226 30528827 False 1 0;0;100 1.2304 True ENSG00000134757 ENSG00000134757 HGNC:3050 DTD1 gene DTD1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000125821 ENSG00000125821 HGNC:16219 DUSP6 gene DUSP6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269 23643382 False 1 0;0;100 1.2304 True ENSG00000139318 ENSG00000139318 HGNC:3072 DUX4 gene DUX4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fascioscapulohumeral muscular dystrophy, MIM#158900 False 1 0;0;100 1.2304 True ENSG00000258389 ENSG00000260596 HGNC:50800 ECE1 gene ECE1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870 9915973;9449665;9449664 False 1 0;0;100 1.2304 True ENSG00000117298 ENSG00000117298 HGNC:3146 ECEL1P2 gene ECEL1P2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000244280 ENSG00000244280 HGNC:14019 EDC3 gene EDC3 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 50, MIM# 616460" 29685133;25701870 False 1 0;0;100 1.2304 True ENSG00000179151 ENSG00000179151 HGNC:26114 EFHC1 gene EFHC1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, juvenile absence, susceptibility to, 1}, 607631;{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 31056551;28370826;29750216 False 1 0;0;100 1.2304 True ENSG00000096093 ENSG00000096093 HGNC:16406 EGF gene EGF Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 4, renal, MIM#611718 17671655 False 1 0;0;100 1.2304 True ENSG00000138798 ENSG00000138798 HGNC:3229 EGFR gene EGFR Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Inflammatory skin and bowel disease, neonatal, 2;OMIM # 616069 24691054 False 1 0;50;50 1.2304 True ENSG00000146648 ENSG00000146648 HGNC:3236 EHBP1 gene EHBP1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Prostate cancer, hereditary, 12} MIM#611868 False 1 0;0;100 1.2304 True ENSG00000115504 ENSG00000115504 HGNC:29144 EIF2AK1 gene EIF2AK1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;white matter abnormalities 32197074 False 1 0;0;100 1.2304 True ENSG00000086232 ENSG00000086232 HGNC:24921 EIF4E gene EIF4E Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Autism, susceptibility to, 19} MIM#615091 19556253;23263185;23172145 False 1 0;0;100 1.2304 True ENSG00000151247 ENSG00000151247 HGNC:3287 EIF4G1 gene EIF4G1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 18} 614251 21907011;23408866;25368108;33239198 False 1 0;0;100 1.2304 True ENSG00000114867 ENSG00000114867 HGNC:3296 ELMOD1 gene ELMOD1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092,ELMOD1-related 31327155 False 1 0;0;100 1.2304 True ENSG00000110675 ENSG00000110675 HGNC:25334 ELMOD2 gene ELMOD2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 16773575 False 1 0;0;100 1.2304 True ENSG00000179387 ENSG00000179387 HGNC:28111 ELMOD3 gene ELMOD3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 88, MIM# 615429;Deafness, autosomal dominant 81, MIM# 619500 24039609;31628468;30284680;29713870 False 1 0;0;100 1.2304 True ENSG00000115459 ENSG00000115459 HGNC:26158 ELOC gene ELOC Expert Review Red;Literature Mendeliome Unknown von Hippel-Lindau disease, MONDO:0008667;renal cell carcinoma, MONDO:0005086;retinal hemangioblastoma, MONDO:0003343 35323939 False 1 0;0;100 1.2304 True ENSG00000154582 ENSG00000154582 HGNC:11617 ENO1 gene ENO1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polymicrogyria, MONDO:0000087, ENO1-related 32488097 False 1 0;0;100 1.2304 True ENSG00000074800 ENSG00000074800 HGNC:3350 EOMES gene EOMES Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Microcephaly, MONDO:0001149, EOMES-related 17353897 False 1 0;0;100 1.2304 True ENSG00000163508 ENSG00000163508 HGNC:3372 EPB41L1 gene EPB41L1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 11, MIM# 614257 21376300;26539891;25961944 False 1 0;0;100 1.2304 True ENSG00000088367 ENSG00000088367 HGNC:3378 EPHA10 gene EPHA10 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted postlingual non-syndromic genetic hearing loss, MONDO:0016298 36048850 False 1 0;0;100 1.2304 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000183317 ENSG00000183317 HGNC:19987 EPHA3 gene EPHA3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000044524 ENSG00000044524 HGNC:3387 EPX gene EPX Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal [Eosinophil peroxidase deficiency] MIM#261500 7809065;11241847 False 1 0;0;100 1.2304 True ENSG00000121053 ENSG00000121053 HGNC:3423 ERBB2 gene ERBB2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown "Visceral neuropathy, familial, 2, autosomal recessive, MIM# 619465" False 1 0;0;100 1.2304 True ENSG00000141736 ENSG00000141736 HGNC:3430 ERC1 gene ERC1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000082805 ENSG00000082805 HGNC:17072 ERMAP gene ERMAP Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Blood types False 1 0;0;100 1.2304 True ENSG00000164010 ENSG00000164010 HGNC:15743 ERMARD gene ERMARD Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 6, MIM#615544 24056535;27087860 False 1 0;0;100 1.2304 True ENSG00000130023 ENSG00000130023 HGNC:21056 ETF1 gene ETF1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000120705 ENSG00000120705 HGNC:3477 ETS1 gene ETS1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ETS1-related 31160359 False 1 0;0;100 1.2304 True ENSG00000134954 ENSG00000134954 HGNC:3488 ETV1 gene ETV1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 16254181;34430591 False 1 0;0;100 1.2304 True ENSG00000006468 ENSG00000006468 HGNC:3490 ETV2 gene ETV2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal multiple fetal anomalies;congenital heart disease MONDO:000545, ETV2-related;vertebral malformations 33359164 False 1 0;0;100 1.2304 True ENSG00000105672 ENSG00000105672 HGNC:3491 EWSR1 gene EWSR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 29731676;22454397 False 1 0;100;0 1.2304 True ENSG00000182944 ENSG00000182944 HGNC:3508 EXOSC1 gene EXOSC1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1F, MIM# 619304 33463720 False 1 0;0;100 1.2304 True ENSG00000171311 ENSG00000171311 HGNC:17286 EYA3 gene EYA3 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Oculo-auriculo-vertebral spectrum (OAVS), MONDO:0015397, EYA3-related 33475861 False 1 0;0;100 1.2304 True ENSG00000158161 ENSG00000158161 HGNC:3521 FAAH2 gene FAAH2 Expert Review Red;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females 34645488;25885783 False 1 0;0;100 1.2304 True ENSG00000165591 ENSG00000165591 HGNC:26440 FAAP24 gene FAAP24 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related 27473539 False 1 0;0;100 1.2304 True ENSG00000131944 ENSG00000131944 HGNC:28467 FAM83G gene FAM83G Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related 29138053 False 1 0;0;100 1.2304 True ENSG00000188522 ENSG00000188522 HGNC:32554 FBF1 gene FBF1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000188878 ENSG00000188878 HGNC:24674 FBLN1 gene FBLN1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180 11836357;24084572 False 1 0;0;100 1.2304 True ENSG00000077942 ENSG00000077942 HGNC:3600 FBLN2 gene FBLN2 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension MONDO:0015924, FBLN2-related 33971972 False 1 0;0;100 1.2304 True ENSG00000163520 ENSG00000163520 HGNC:3601 FBXL7 gene FBXL7 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome PMID: 31633297 False 1 0;100;0 1.2304 True ENSG00000183580 ENSG00000183580 HGNC:13604 FBXW4 gene FBXW4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Split-hand/foot malformation 3 syndrome MIM#246560 12913067;16235095;27600068 False 1 0;0;100 1.2304 True ENSG00000107829 ENSG00000107829 HGNC:10847 FCGR2B gene FCGR2B Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal {Systemic lupus erythematosus, susceptibility to} MIM#152700 12115230;15153543;20385827 False 1 0;0;100 1.2304 True ENSG00000072694 ENSG00000072694 HGNC:3618 FFAR4 gene FFAR4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Obesity, susceptibility to} MIM#607514 22343897;34043793 False 1 0;0;100 1.2304 True ENSG00000186188 ENSG00000186188 HGNC:19061 FIP1L1 gene FIP1L1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000145216 ENSG00000145216 HGNC:19124 FLRT3 gene FLRT3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271) 23643382;31200363 False 1 0;0;100 1.2304 True ENSG00000125848 ENSG00000125848 HGNC:3762 FLT3 gene FLT3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000122025 ENSG00000122025 HGNC:3765 FMNL2 gene FMNL2 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory bowel disease, MONDO:0005265, FMNL2-related 34043722 False 1 0;100;0 1.2304 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157827 ENSG00000157827 HGNC:18267 FOXD3 gene FOXD3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Autoimmune disease, susceptibility to, 1 MONDO:0011919 16098053 False 1 0;0;100 1.2304 True ENSG00000187140 ENSG00000187140 HGNC:3804 FOXL1 gene FOXL1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Otosclerosis 11 #MIM620576 PMID: 34633540 False 1 0;0;100 1.2304 True ENSG00000176678 ENSG00000176678 HGNC:3817 FPR1 gene FPR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Periodontitis 29105764;28371599 False 1 0;0;100 1.2304 True ENSG00000171051 ENSG00000171051 HGNC:3826 FRZB gene FRZB Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Osteoarthritis susceptibility 1} MIM#165720 15210948 False 1 0;0;100 1.2304 True ENSG00000162998 ENSG00000162998 HGNC:3959 FSCN2 gene FSCN2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 30 MIM#607921;Macular degeneration 11527955;16043865;16280978;17251446;18450588 False 1 0;0;100 1.2304 True ENSG00000186765 ENSG00000186765 HGNC:3960 FST gene FST Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft lip and palate 31215115 False 1 0;0;100 1.2304 True ENSG00000134363 ENSG00000134363 HGNC:3971 FSTL5 gene FSTL5 Expert Review Red;Literature Mendeliome Unknown isolated club-foot;iTEV;Talipes equinovarus 33105483 False 1 0;0;100 1.2304 True ENSG00000168843 ENSG00000168843 HGNC:21386 FUT1 gene FUT1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal [Bombay phenotype] MIM#616754 7912436;21804525 False 1 0;0;0 1.2304 True ENSG00000174951 ENSG00000174951 HGNC:4012 FUT2 gene FUT2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Bombay phenotype, digenic] 616754;{Norwalk virus infection, resistance to};{Vitamin B12 plasma level QTL1} 612542 False 1 0;0;100 1.2304 True ENSG00000176920 ENSG00000176920 HGNC:4013 FUT6 gene FUT6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Fucosyltransferase 6 deficiency, MIM# 613852 False 1 0;0;100 1.2304 True ENSG00000156413 ENSG00000156413 HGNC:4017 FXYD6 gene FXYD6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Schizophrenia MONDO:0005090 17357072;26193471;29895895 False 1 0;0;100 1.2304 True ENSG00000137726 ENSG00000137726 HGNC:4030 FZD3 gene FZD3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000104290 ENSG00000104290 HGNC:4041 G6PC2 gene G6PC2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000152254 ENSG00000152254 HGNC:28906 GABRA6 gene GABRA6 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Benign familial inherited epilepsy;Childhood absence epilepsy 21930603;29215089;19429026 False 1 0;0;100 1.2304 True ENSG00000145863 ENSG00000145863 HGNC:4080 GABRG1 gene GABRG1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy MONDO:0100062 PMID: 36121006 False 1 0;0;0 1.2304 True ENSG00000163285 ENSG00000163285 HGNC:4086 GALNT12 gene GALNT12 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000119514 ENSG00000119514 HGNC:19877 GAS1 gene GAS1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 21842183;20583177 False 1 0;0;100 1.2304 True ENSG00000180447 ENSG00000180447 HGNC:4165 GATAD1 gene GATAD1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal ?Cardiomyopathy, dilated, 2B MIM#614672 21965549 False 1 0;0;100 1.2304 True ENSG00000157259 ENSG00000157259 HGNC:29941 GATB gene GATB Expert Review Red;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy 30283131 False 1 0;0;100 1.2304 True ENSG00000059691 ENSG00000059691 HGNC:8849 GATC gene GATC Expert Review Red;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy 30283131 False 1 0;0;100 1.2304 True ENSG00000257218 ENSG00000257218 HGNC:25068 GC gene GC Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000145321 ENSG00000145321 HGNC:4187 GCKR gene GCKR Expert Review Red;Victorian Clinical Genetics Services Mendeliome Other 31777715 False 1 0;0;100 1.2304 True ENSG00000084734 ENSG00000084734 HGNC:4196 GDF3 gene GDF3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Microphthalmia with coloboma 6, MIM# 613703;Microphthalmia, isolated 7, MIM# 613704 19864492 False 1 0;0;100 1.2304 True ENSG00000184344 ENSG00000184344 HGNC:4218 GDNF gene GDNF Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Hirschsprung disease, susceptibility to, 3} MIM#613711 8896568, 8968758 False 1 0;0;100 1.2304 True ENSG00000168621 ENSG00000168621 HGNC:4232 GET4 gene GET4 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation,, type IIy MIM#620200 32395830 False 1 0;0;100 1.2304 True ENSG00000239857 ENSG00000239857 HGNC:21690 GIGYF2 gene GIGYF2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Parkinson disease 11} MIM#607688 18358451;33239198;25279164;20060621;19250854;26152800;19449032 False 1 0;50;50 1.2304 True ENSG00000204120 ENSG00000204120 HGNC:11960 GINS2 gene GINS2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome with craniosynostosis 34353863 False 1 0;0;100 1.2304 True ENSG00000131153 ENSG00000131153 HGNC:24575 GLCCI1 gene GLCCI1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Glucocorticoid therapy, response to} 614400 False 1 0;0;100 1.2304 True ENSG00000106415 ENSG00000106415 HGNC:18713 GLIS1 gene GLIS1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Increased ocular pressure;Glaucoma 34385434 False 1 0;0;100 1.2304 True ENSG00000174332 ENSG00000174332 HGNC:29525 GLRX gene GLRX Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000173221 ENSG00000173221 HGNC:4330 GLRX2 gene GLRX2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000023572 ENSG00000023572 HGNC:16065 GLRX3 gene GLRX3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 23615448 False 1 0;0;100 1.2304 True ENSG00000108010 ENSG00000108010 HGNC:15987 GNAS-AS1 gene GNAS-AS1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Pseudohypoparathyroidism type 1b MIM no: 603233 22378814;15592469;29959430;25005734 False 1 0;0;100 1.2304 True ENSG00000235590 ENSG00000235590 HGNC:24872 GOLGA3 gene GOLGA3 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 23495255;32367404 False 1 0;0;100 1.2304 True ENSG00000090615 ENSG00000090615 HGNC:4426 GOT1 gene GOT1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Aspartate aminotransferase, serum level of, QTL1, MIM# 614419 False 1 0;0;100 1.2304 True ENSG00000120053 ENSG00000120053 HGNC:4432 GPKOW gene GPKOW Expert Review Red;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females male-lethal microcephaly with intrauterine growth restriction 28612833 False 1 0;0;100 1.2304 True ENSG00000068394 ENSG00000068394 HGNC:30677 GPX1 gene GPX1 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164 1131421;476008;5766310;2492138 False 1 0;0;100 1.2304 True ENSG00000233276 ENSG00000233276 HGNC:4553 GRAP gene GRAP Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 114, MIM# 618456" 30610177 False 1 0;0;100 1.2304 True ENSG00000154016 ENSG00000154016 HGNC:4562 GRIK5 gene GRIK5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000105737 ENSG00000105737 HGNC:4583 GSPT2 gene GSPT2 Expert Review;Expert Review Red Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability 28414775 False 1 0;0;100 1.2304 True ENSG00000189369 ENSG00000189369 HGNC:4622 GSTO1 gene GSTO1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Deficiency of Human Glutathione Transferase Omega 1 21106529 False 1 0;0;100 1.2304 True ENSG00000148834 ENSG00000148834 HGNC:13312 GSTO2 gene GSTO2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000065621 ENSG00000065621 HGNC:23064 GTF3A gene GTF3A Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal herpes simplex encephalitis MONDO:0012521 36399538 False 1 0;0;100 1.2304 True ENSG00000122034 ENSG00000122034 HGNC:4662 GUF1 gene GUF1 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 40, MIM# 617065" 26486472 False 1 0;0;100 1.2304 True ENSG00000151806 ENSG00000151806 HGNC:25799 GYPA gene GYPA Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [Blood group, MNSs system] 111300 False 1 0;0;100 1.2304 True ENSG00000170180 ENSG00000170180 HGNC:4702 GYPB gene GYPB Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [Blood group, Ss] 111740 False 1 0;0;100 1.2304 True ENSG00000250361 ENSG00000250361 HGNC:4703 GYPC gene GYPC Expert Review Red;Victorian Clinical Genetics Services Mendeliome Other [Blood group, Gerbich] MIM#616089 29469208 False 1 0;0;100 1.2304 True ENSG00000136732 ENSG00000136732 HGNC:4704 H19 gene H19 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation);Affected tissue: all;Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome 20007505;15743916;23118352;21863054;21571108;18245780;24916376;25943194 False 1 0;0;100 1.2304 True ENSG00000130600 ENSG00000130600 HGNC:4713 HAO1 gene HAO1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000101323 ENSG00000101323 HGNC:4809 HCRT gene HCRT Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Narcolepsy 1 , MIM# 161400 10973318;11148249;11723284 False 1 0;0;100 1.2304 True ENSG00000161610 ENSG00000161610 HGNC:4847 HEPHL1 gene HEPHL1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Abnormal hair, joint laxity, and developmental delay (MIM#261990) PMID: 31125343;31293895 False 1 0;0;100 1.2304 True ENSG00000181333 ENSG00000181333 HGNC:30477 HEY2 gene HEY2 Expert Review Red;Literature Mendeliome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal congenital heart disease MONDO:0005453;thoracic aortic aneurysms 32820247 False 1 0;0;100 1.2304 True ENSG00000135547 ENSG00000135547 HGNC:4881 HHIP gene HHIP Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 27082974;31631996 False 1 0;0;100 1.2304 True ENSG00000164161 ENSG00000164161 HGNC:14866 HIBADH gene HIBADH Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Organic aciduria 34176136 False 1 0;0;100 1.2304 True ENSG00000106049 ENSG00000106049 HGNC:4907 HKDC1 gene HKDC1 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 92, MIM# 619614 30085091 False 1 0;0;100 1.2304 True ENSG00000156510 ENSG00000156510 HGNC:23302 HLA-A gene HLA-A Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000206503 ENSG00000206503 HGNC:4931 HLA-B gene HLA-B Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000234745 ENSG00000234745 HGNC:4932 HLA-C gene HLA-C Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000204525 ENSG00000204525 HGNC:4933 HLA-DRA gene HLA-DRA Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000204287 ENSG00000204287 HGNC:4947 HLA-DRB1 gene HLA-DRB1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000196126 ENSG00000196126 HGNC:4948 HMCN1 gene HMCN1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Macular degeneration, age-related, 1} MIM#603075;age related macular degeneration 1 MONDO:0011285 25986072;16020313;14570714;27007659 False 1 0;0;100 1.2304 True ENSG00000143341 ENSG00000143341 HGNC:19194 HOXA4 gene HOXA4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microtia-Atresia;CAKUT 33193662;22371315 False 1 0;0;100 1.2304 True ENSG00000197576 ENSG00000197576 HGNC:5105 HOXB6 gene HOXB6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypospadias 22371315;17003840 False 1 0;0;100 1.2304 True ENSG00000108511 ENSG00000108511 HGNC:5117 HOXD10 gene HOXD10 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, foot deformity of;Vertical talus, congenital (MIM#192950) 15146389;16450407 False 1 0;50;50 1.2304 True ENSG00000128710 ENSG00000128710 HGNC:5133 HOXD4 gene HOXD4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000170166 ENSG00000170166 HGNC:5138 HP gene HP Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Anhaptoglobinemia] 614081;[Hypohaptoglobinemia] 614081 False 1 0;0;100 1.2304 True ENSG00000257017 ENSG00000257017 HGNC:5141 HS3ST6 gene HS3ST6 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-8 (HAE8), MIM#619367 33508266 False 1 0;0;100 1.2304 True ENSG00000162040 ENSG00000162040 HGNC:14178 HS6ST1 gene HS6ST1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Other {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 21700882 False 1 0;0;100 1.2304 True ENSG00000136720 ENSG00000136720 HGNC:5201 HSP90B2P gene HSP90B2P Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000259706 ENSG00000259706 HGNC:12099 HSPB3 gene HSPB3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IIC, MIM# 613376 20142617;27549087 False 1 0;0;100 1.2304 True ENSG00000169271 ENSG00000169271 HGNC:5248 HTR1A gene HTR1A Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodic fever, menstrual cycle dependent, MIM# 614674 21990073 False 1 0;0;100 1.2304 True ENSG00000178394 ENSG00000178394 HGNC:5286 HTR3C gene HTR3C Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 19035560;18681779 False 1 0;0;100 1.2304 True ENSG00000178084 ENSG00000178084 HGNC:24003 HTR3D gene HTR3D Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000186090 ENSG00000186090 HGNC:24004 HYKK gene HYKK Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351 23242558 False 1 0;0;100 1.2304 True ENSG00000188266 ENSG00000188266 HGNC:34403 ICAM1 gene ICAM1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000090339 ENSG00000090339 HGNC:5344 ICAM4 gene ICAM4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Blood group, Landsteiner-Wiener] 111250 False 1 0;0;100 1.2304 True ENSG00000105371 ENSG00000105371 HGNC:5347 IFITM3 gene IFITM3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Influenza, severe, susceptibility to} 614680 False 1 0;0;100 1.2304 True ENSG00000142089 ENSG00000142089 HGNC:5414 IFRD1 gene IFRD1 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary spastic paraplegia;peripheral neuropathy;ataxia 29362493 False 1 0;0;100 1.2304 True ENSG00000006652 ENSG00000006652 HGNC:5456 IFT57 gene IFT57 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XVIII, MIM# 617927 27060890 False 1 0;0;100 1.2304 True ENSG00000114446 ENSG00000114446 HGNC:17367 IGBP1 gene IGBP1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 14556245 False 1 0;0;100 1.2304 True ENSG00000089289 ENSG00000089289 HGNC:5461 IL12RB2 gene IL12RB2 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Susceptibility to mycobacteria and Salmonella 30578351 False 1 0;0;100 1.2304 True ENSG00000081985 ENSG00000081985 HGNC:5972 IL13 gene IL13 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Allergic rhinitis, susceptibility to} 607154;{Asthma, susceptibility to} 600807 False 1 0;0;100 1.2304 True ENSG00000169194 ENSG00000169194 HGNC:5973 IL17F gene IL17F Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Candidiasis, familial, 6, autosomal dominant, MIM# 613956 21350122 False 1 0;0;100 1.2304 True ENSG00000112116 ENSG00000112116 HGNC:16404 IL18BP gene IL18BP Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "{?Hepatitis, fulminant viral, susceptibility to} 618549" 31213488 False 1 0;0;100 1.2304 True ENSG00000137496 ENSG00000137496 HGNC:5987 IL1R1 gene IL1R1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chronic recurrent multifocal osteomyelitis 3, MIM# 259680 37315560 False 1 0;0;100 1.2304 True ENSG00000115594 ENSG00000115594 HGNC:5993 IL1RAP gene IL1RAP Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Steroid-sensitive nephrotic syndrome 31954058 False 1 0;0;100 1.2304 True ENSG00000196083 ENSG00000196083 HGNC:5995 IL21 gene IL21 Expert Review Red;Literature;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 11, MIM# 615767 24746753 False 1 0;0;100 1.2304 True ENSG00000138684 ENSG00000138684 HGNC:6005 IL31RA gene IL31RA Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, primary localized cutaneous, 2, MIM# 613955 False 1 0;0;100 1.2304 True ENSG00000164509 ENSG00000164509 HGNC:18969 IL37 gene IL37 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398 33674380 False 1 0;0;100 1.2304 True ENSG00000125571 ENSG00000125571 HGNC:15563 IL4 gene IL4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000113520 ENSG00000113520 HGNC:6014 IL6 gene IL6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Crohn disease-associated growth failure} 266600;{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} 108010;{Rheumatoid arthritis, systemic juvenile} 604302;{Kaposi sarcoma, susceptibility to} 148000;{Type 1 diabetes mellitus} 222100;{Type 2 diabetes mellitus} 125853 False 1 0;0;100 1.2304 True ENSG00000136244 ENSG00000136244 HGNC:6018 ILF2 gene ILF2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000143621 ENSG00000143621 HGNC:6037 ILK gene ILK Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy 17646580;27886618;25163546 False 1 0;50;50 1.2304 True ENSG00000166333 ENSG00000166333 HGNC:6040 IMMP2L gene IMMP2L Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism 29788020;29152845 False 1 0;0;100 1.2304 True ENSG00000184903 ENSG00000184903 HGNC:14598 ING1 gene ING1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Squamous cell carcinoma, head and neck, somatic, MIM# 275355 False 1 0;0;100 1.2304 True ENSG00000153487 ENSG00000153487 HGNC:6062 ING3 gene ING3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000071243 ENSG00000071243 HGNC:14587 INSRR gene INSRR Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000027644 ENSG00000027644 HGNC:6093 INTS6 gene INTS6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000102786 ENSG00000102786 HGNC:14879 INTS8 gene INTS8 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 28542170 False 1 0;0;100 1.2304 True ENSG00000164941 ENSG00000164941 HGNC:26048 IQCG gene IQCG Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000114473 ENSG00000114473 HGNC:25251 IQGAP3 gene IQGAP3 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary neuropathy False 1 0;0;100 1.2304 True ENSG00000183856 ENSG00000183856 HGNC:20669 IRAK1 gene IRAK1 Expert list;Expert Review Red Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Susceptibility to bacterial infections 28069966 False 1 0;0;100 1.2304 True ENSG00000184216 ENSG00000184216 HGNC:6112 IRAK2 gene IRAK2 Expert Review Red;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immune dysregulation, MONDO:0957790, IRAK2-related PMID: 39299377 False 1 0;0;100 1.2304 True ENSG00000134070 ENSG00000134070 HGNC:6113 IRAK3 gene IRAK3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000090376 ENSG00000090376 HGNC:17020 IRF5 gene IRF5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Inflammatory bowel disease 14} 612245;{Systemic lupus erythematosus, susceptibility to, 10} 612251 False 1 0;0;100 1.2304 True ENSG00000128604 ENSG00000128604 HGNC:6120 IRGM gene IRGM Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Inflammatory bowel disease (Crohn disease) 19} MIM#612278 17554261;19299395;18985712;20106866;21278745;20360734 False 1 0;0;100 1.2304 True ENSG00000237693 ENSG00000237693 HGNC:29597 IRS1 gene IRS1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Coronary artery disease, susceptibility to};{Type 2 diabetes mellitus, susceptibility to}, MIM# 125853 False 1 0;0;100 1.2304 True ENSG00000169047 ENSG00000169047 HGNC:6125 IRX4 gene IRX4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular septal defect 21544582 False 1 0;0;100 1.2304 True ENSG00000113430 ENSG00000113430 HGNC:6129 ITGA9 gene ITGA9 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000144668 ENSG00000144668 HGNC:6145 ITGAM gene ITGAM Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000169896 ENSG00000169896 HGNC:6149 ITPKB gene ITPKB Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency MONDO:0015974, absent T cells, present B cells and NK cells 31987846 False 1 0;0;100 1.2304 True ENSG00000143772 ENSG00000143772 HGNC:6179 ITPKC gene ITPKC Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 32283413;29098351;27036498 False 1 0;0;100 1.2304 True ENSG00000086544 ENSG00000086544 HGNC:14897 JPT1 gene JPT1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000189159 ENSG00000189159 HGNC:14569 KAAG1 gene KAAG1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000146049 ENSG00000146049 HGNC:21031 KALRN gene KALRN Expert Review Red;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Susceptibility to coronary heart disease;Intellectual disability 17357071;27421267;30675382;32580138 False 1 0;0;100 1.2304 True ENSG00000160145 ENSG00000160145 HGNC:4814 KANK1 gene KANK1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrotic syndrome;Cerebral palsy, spastic quadriplegic, 2, MIM#612900 25961457;29729439;30684669;16301218 False 1 0;0;100 1.2304 True ENSG00000107104 ENSG00000107104 HGNC:19309 KAT2B gene KAT2B Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related;cataract MONDO:0005129, KAT2B-related 39366742 False 1 0;0;100 1.2304 True ENSG00000114166 ENSG00000114166 HGNC:8638 KCNAB3 gene KCNAB3 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related 37396552;32990398;36345448 False 1 0;0;100 1.2304 True ENSG00000170049 ENSG00000170049 HGNC:6230 KCNE3 gene KCNE3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 29959160 False 1 0;0;100 1.2304 True ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE5 gene KCNE5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Atrial fibrillation 18313602;16054468;30289750 False 1 0;0;100 1.2304 True ENSG00000176076 ENSG00000176076 HGNC:6241 KCNIP4 gene KCNIP4 Expert Review Red;Literature Mendeliome Unknown seizures;epilepsy 33826137 False 1 0;0;100 1.2304 True ENSG00000185774 ENSG00000185774 HGNC:30083 KCNJ18 gene KCNJ18 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239" 20074522;27008341 False 1 0;0;100 1.2304 True - ENSG00000260458 HGNC:39080 KCNMB1 gene KCNMB1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Hypertension, diastolic, resistance to} 608622 False 1 0;0;100 1.2304 True ENSG00000145936 ENSG00000145936 HGNC:6285 KCNQ1OT1 gene KCNQ1OT1 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Beckwith-Wiedemann syndrome OMIM:130650;Russell-Silver Syndrome 22205991;15372379;23511928;30794780;29377879;10220444;32447323;33177595;29047350 False 1 0;100;0 1.2304 True ENSG00000269821 ENSG00000269821 HGNC:6295 KCTD13 gene KCTD13 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), KCTD13-related 33409479;22596160;29088697 False 1 0;0;100 1.2304 True ENSG00000174943 ENSG00000174943 HGNC:22234 KDM7A gene KDM7A Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy 25666757 False 1 0;0;100 1.2304 True ENSG00000006459 ENSG00000006459 HGNC:22224 KEL gene KEL Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown "[Blood group, Kell] 110900" False 1 0;0;100 1.2304 True ENSG00000197993 ENSG00000197993 HGNC:6308 KIAA0319 gene KIAA0319 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Dyslexia, susceptibility to, 2}, MIM#600202 False 1 0;0;100 1.2304 True ENSG00000137261 ENSG00000137261 HGNC:21580 KIF15 gene KIF15 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Braddock-Carey syndrome 2 - MIM#619981 28150392 False 1 0;100;0 1.2304 True ENSG00000163808 ENSG00000163808 HGNC:17273 KIF17 gene KIF17 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Microphthalmia;Coloboma 33922911;30458707;28341548 False 1 0;0;100 1.2304 True ENSG00000117245 ENSG00000117245 HGNC:19167 KIF1B gene KIF1B Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2A1 MIM#118210;Hypotonia, coloboma, hypoplasia of the corpus callosum, severe neurodevelopmental delay 33710394;11389829;30126838;25802885 False 1 0;33;67 1.2304 True ENSG00000054523 ENSG00000054523 HGNC:16636 KIF20A gene KIF20A Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial restrictive, 6, MIM# 619433 29357359 False 1 0;0;100 1.2304 True ENSG00000112984 ENSG00000112984 HGNC:9787 KIF26B gene KIF26B Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis 30151950 False 1 0;0;100 1.2304 True ENSG00000162849 ENSG00000162849 HGNC:25484 KIF27 gene KIF27 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000165115 ENSG00000165115 HGNC:18632 KIRREL3 gene KIRREL3 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability 19012874 False 1 0;0;100 1.2304 True ENSG00000149571 ENSG00000149571 HGNC:23204 KLC4 gene KLC4 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Complicated hereditary spastic paraplegia 26423925 False 1 0;0;100 1.2304 True ENSG00000137171 ENSG00000137171 HGNC:21624 KLF10 gene KLF10 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HCM 22234868 False 1 0;0;100 1.2304 True ENSG00000155090 ENSG00000155090 HGNC:11810 KLF11 gene KLF11 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young, type VII MIM#610508 15774581;26248217;23589285;31124255;35108381 False 1 0;100;0 1.2304 True ENSG00000172059 ENSG00000172059 HGNC:11811 KLF14 gene KLF14 Expert Review Red;Other Mendeliome Unknown diabetes mellitus MONDO:0005015 33389382;35081256;24486580 False 1 0;0;100 1.2304 True - - HGNC:23025 KLF2 gene KLF2 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension MONDO:0015924, KLF2-related 28188237 False 1 0;0;100 1.2304 True ENSG00000127528 ENSG00000127528 HGNC:6347 KLF6 gene KLF6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000067082 ENSG00000067082 HGNC:2235 KLHDC8B gene KLHDC8B Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Hodgkin lymphoma, susceptibility to} 236000 False 1 0;0;100 1.2304 True ENSG00000185909 ENSG00000185909 HGNC:28557 KLHL13 gene KLHL13 Expert Review;Expert Review Red;Royal Melbourne Hospital Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females HMSN 24627108 False 1 0;0;100 1.2304 True ENSG00000003096 ENSG00000003096 HGNC:22931 KLK1 gene KLK1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [Kallikrein, decreased urinary activity of] 615953;Pulmonary arterial hypertension MONDO:0015924 31727138;17573418 False 1 0;0;100 1.2304 True ENSG00000167748 ENSG00000167748 HGNC:6357 KLLN gene KLLN Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 21177507 False 1 0;0;0 1.2304 True ENSG00000227268 ENSG00000227268 HGNC:37212 KMO gene KMO Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal pellagra MONDO:0019975 28187857;24189070 False 1 0;0;100 1.2304 True ENSG00000117009 ENSG00000117009 HGNC:6381 KRT18 gene KRT18 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Cirrhosis, cryptogenic , MIM#215600 9011570;27689336;20538000 False 1 0;0;100 1.2304 True ENSG00000111057 ENSG00000111057 HGNC:6430 KRT75 gene KRT75 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Pseudofolliculitis barbae, susceptibility to} 612318 False 1 0;0;100 1.2304 True ENSG00000170454 ENSG00000170454 HGNC:24431 KRT8 gene KRT8 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Cirrhosis, cryptogenic, MIM# 215600" 15235035;11372009;12724528 False 1 0;0;100 1.2304 True ENSG00000170421 ENSG00000170421 HGNC:6446 KSR2 gene KSR2 Expert Review;Expert Review Red Mendeliome Other Obesity 29273807;24209692 False 1 0;0;100 1.2304 True ENSG00000171435 ENSG00000171435 HGNC:18610 L3MBTL1 gene L3MBTL1 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Affected tissue: myeloid lineages;Phenotype resulting from under expression: lymphoid malignancy 23543057;15123827;30794780 False 1 0;0;100 1.2304 True ENSG00000185513 ENSG00000185513 HGNC:15905 LAMA4 gene LAMA4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1JJ (MIM#615235) 17646580;26406308;27532257 False 1 0;0;100 1.2304 True ENSG00000112769 ENSG00000112769 HGNC:6484 LAMC1 gene LAMC1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000135862 ENSG00000135862 HGNC:6492 LDHB gene LDHB Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Lactate dehydrogenase B deficiency, MIM# 614128 6383647 False 1 0;0;100 1.2304 True ENSG00000111716 ENSG00000111716 HGNC:6541 LEFTY2 gene LEFTY2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy 10518210;10053005 False 1 0;0;100 1.2304 True ENSG00000143768 ENSG00000143768 HGNC:3122 LHX8 gene LHX8 Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited premature ovarian failure, MONDO:0019852, LHX8-related 36029299 False 1 100;0;0 1.2304 False ENSG00000162624 ENSG00000162624 HGNC:28838 LIMS2 gene LIMS2 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue MIM#616827 25589244;16317048 False 1 0;0;100 1.2304 True ENSG00000072163 ENSG00000072163 HGNC:16084 LIPI gene LIPI Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000188992 ENSG00000188992 HGNC:18821 LIPN gene LIPN Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 8, MIM# 613943 21439540 False 1 0;0;100 1.2304 True ENSG00000204020 ENSG00000204020 HGNC:23452 LLGL1 gene LLGL1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000131899 ENSG00000131899 HGNC:6628 LONP2 gene LONP2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000102910 ENSG00000102910 HGNC:20598 LOXL1 gene LOXL1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Other Exfoliation syndrome, susceptibility to, MIM#177650 False 1 0;0;100 1.2304 True ENSG00000129038 ENSG00000129038 HGNC:6665 LRP8 gene LRP8 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000157193 ENSG00000157193 HGNC:6700 LRRC8A gene LRRC8A Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000136802 ENSG00000136802 HGNC:19027 LSM1 gene LSM1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal intellectual disability;congenital abnormalities 31010896 False 1 0;0;100 1.2304 True ENSG00000175324 ENSG00000175324 HGNC:20472 LSM11 gene LSM11 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 8, MIM# 619486 PMID: 33230297 False 1 0;50;50 1.2304 True ENSG00000155858 ENSG00000155858 HGNC:30860 LTA gene LTA Expert Review Red;Victorian Clinical Genetics Services Mendeliome Other Myocardial infarction, susceptibility to, MIM# 608446 False 1 0;0;100 1.2304 True ENSG00000226979 ENSG00000226979 HGNC:6709 LTC4S gene LTC4S Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Leukotriene C4 synthase deficiency, MIM# 614037 False 1 0;0;100 1.2304 True ENSG00000213316 ENSG00000213316 HGNC:6719 LY96 gene LY96 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, LY96-related 36462957 False 1 0;0;100 1.2304 True ENSG00000154589 ENSG00000154589 HGNC:17156 LZTS1 gene LZTS1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Esophageal squamous cell carcinoma, somatic, MIM# 133239 False 1 0;0;100 1.2304 True ENSG00000061337 ENSG00000061337 HGNC:13861 MACROD2 gene MACROD2 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual disability;dysmorphic features;microcephaly 31055587 False 1 0;0;100 1.2304 True ENSG00000172264 ENSG00000172264 HGNC:16126 MAD2L2 gene MAD2L2 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group V, MIM# 617243" 27500492 False 1 0;0;100 1.2304 True ENSG00000116670 ENSG00000116670 HGNC:6764 MAN2A2 gene MAN2A2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated 36357165 False 1 0;0;100 1.2304 True ENSG00000196547 ENSG00000196547 HGNC:6825 MAOB gene MAOB Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy 31700678 False 1 0;0;100 1.2304 True ENSG00000069535 ENSG00000069535 HGNC:6834 MAP1LC3B2 gene MAP1LC3B2 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related;Mollaret s meningitis (recurrent lymphocytic meningitis) due to HSV2 35748970;33310865 False 1 0;0;100 1.2304 True ENSG00000258102 ENSG00000258102 HGNC:34390 MAPK8IP1 gene MAPK8IP1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Susceptibility to diabetes mellitus, noninsulin-dependent MIM#125853 10700186 False 1 0;0;100 1.2304 True ENSG00000121653 ENSG00000121653 HGNC:6882 MARK4 gene MARK4 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder (MONDO:0700092), MARK4-related PMID: 38041405 False 1 0;100;0 1.2304 True Other ENSG00000007047 ENSG00000007047 HGNC:13538 MASP2 gene MASP2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal MASP2 deficiency, MIM# 613791 False 1 0;0;100 1.2304 True ENSG00000009724 ENSG00000009724 HGNC:6902 MAST2 gene MAST2 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombophilia;venous thrombosis PMID: 33465109 False 1 0;0;100 1.2304 True ENSG00000086015 ENSG00000086015 HGNC:19035 MBL2 gene MBL2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Chronic infections, due to MBL deficiency} 614372 False 1 0;0;100 1.2304 True ENSG00000165471 ENSG00000165471 HGNC:6922 MBNL1 gene MBNL1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000152601 ENSG00000152601 HGNC:6923 MC3R gene MC3R Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Obesity, severe, susceptibility to, BMIQ9} 602025 False 1 0;0;100 1.2304 True ENSG00000124089 ENSG00000124089 HGNC:6931 MCF2 gene MCF2 Expert Review Red;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Perisylvian polymicrogyria 31846234 False 1 0;0;100 1.2304 True ENSG00000101977 ENSG00000101977 HGNC:6940 MCF2L gene MCF2L Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted vascular malformation MONDO:0024291, MCF2L-related 36760094 False 1 0;0;100 1.2304 True ENSG00000126217 ENSG00000126217 HGNC:14576 MCM2 gene MCM2 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 70, MIM# 616968 26196677 False 1 0;0;100 1.2304 True ENSG00000073111 ENSG00000073111 HGNC:6944 MCM5 gene MCM5 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 8 (MIM#617564) 28198391 False 1 0;0;100 1.2304 True ENSG00000100297 ENSG00000100297 HGNC:6948 MDM2 gene MDM2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Lessel-Kubisch syndrome, MIM# 618681 28846075 False 1 0;50;50 1.2304 True ENSG00000135679 ENSG00000135679 HGNC:6973 ME2 gene ME2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal inborn disorder of energy metabolism MONDO:0019243 39401966 False 1 0;0;100 1.2304 True ENSG00000082212 ENSG00000082212 HGNC:6984 MEF2A gene MEF2A Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Coronary artery disease, autosomal dominant, 1} 608320 False 1 0;0;100 1.2304 True ENSG00000068305 ENSG00000068305 HGNC:6993 MEIS1 gene MEIS1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000143995 ENSG00000143995 HGNC:7000 MEPCE gene MEPCE Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures 31467394 False 1 0;0;100 1.2304 True ENSG00000146834 ENSG00000146834 HGNC:20247 METAP1 gene METAP1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability, aggression, neurodevelopmental delay PMID: 32764695 False 1 0;0;100 1.2304 True ENSG00000164024 ENSG00000164024 HGNC:15789 MICA gene MICA Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000204520 ENSG00000204520 HGNC:7090 MICB gene MICB Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000204516 ENSG00000204516 HGNC:7091 MIEF1 gene MIEF1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 14 (MIM#620550) 33632269 False 1 0;100;0 1.2304 True ENSG00000100335 ENSG00000100335 HGNC:25979 MIEF2 gene MIEF2 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 49, MIM# 619024;Progressive muscle weakness;Exercise intolerance;Ragged red and COX negative fibres;Complex I and IV deficiency 29361167 False 1 0;0;100 1.2304 True ENSG00000177427 ENSG00000177427 HGNC:17920 MIF gene MIF Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Rheumatoid arthritis, systemic juvenile, susceptibility to}, MIM# 604302 False 1 0;0;100 1.2304 True ENSG00000240972 ENSG00000240972 HGNC:7097 MIR145 gene MIR145 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown multisystemic smooth muscle dysfunction syndrome (MONDO:0013452), MIR145-related 36649075 False 1 0;0;100 1.2304 True - - HGNC:31532 MIR182 gene MIR182 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000207990 ENSG00000207990 HGNC:31553 MIR183 gene MIR183 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000207691 ENSG00000207691 HGNC:31554 MIR5004 gene MIR5004 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000264085 ENSG00000284256 HGNC:43532 MIR936 gene MIR936 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000216083 ENSG00000283788 HGNC:33679 MLX gene MLX Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000108788 ENSG00000108788 HGNC:11645 MMP23A gene MMP23A Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000215914 ENSG00000215914 HGNC:7170 MMP25 gene MMP25 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000008516 ENSG00000008516 HGNC:14246 MMP3 gene MMP3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Coronary heart disease, susceptibility to, 6} 614466 12750310;10351963 False 1 0;0;100 1.2304 True ENSG00000149968 ENSG00000149968 HGNC:7173 MMS19 gene MMS19 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodegenerative disease, MONDO:0005559, MMS19-related 38411040 False 1 0;0;100 1.2304 True ENSG00000155229 ENSG00000155229 HGNC:13824 MOG gene MOG Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Narcolepsy 7 , MIM# 614250 21907016 False 1 0;0;100 1.2304 True ENSG00000204655 ENSG00000204655 HGNC:7197 MPP3 gene MPP3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000161647 ENSG00000161647 HGNC:7221 MPST gene MPST Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000128309 ENSG00000128309 HGNC:7223 MRPL12 gene MRPL12 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Growth retardation;neurological deterioration;mitochondrial translation deficiency;Combined oxidative phosphorylation deficiency 45, MIM#618951 23603806 False 1 0;0;100 1.2304 True ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL42 gene MRPL42 Expert Review Red;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 False 1 0;0;100 1.2304 True ENSG00000198015 ENSG00000198015 HGNC:14493 MRPS25 gene MRPS25 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 50, MIM# 619025;Dyskinetic cerebral palsy;Mitochondrial myopathy;Partial agenesis of the corpus callosum" 31039582 False 1 0;0;100 1.2304 True ENSG00000131368 ENSG00000131368 HGNC:14511 MRPS28 gene MRPS28 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Intrauterine growth retardation;developmental delay;dysmorphism 30566640 False 1 0;0;100 1.2304 True ENSG00000147586 ENSG00000147586 HGNC:14513 MRVI1 gene MRVI1 Expert Review Red;NHS GMS Mendeliome Unknown Moyamoya disease MONDO:0016820 30001348 False 1 0;0;100 1.2304 True ENSG00000072952 ENSG00000072952 HGNC:7237 MSMB gene MSMB Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Prostate cancer, hereditary, 13} 611928 False 1 0;0;100 1.2304 True ENSG00000138294 ENSG00000263639 HGNC:7372 MSR1 gene MSR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Barrett esophagus/esophageal adenocarcinoma, MIM# 614266 12958598;21791690 False 1 0;0;100 1.2304 True ENSG00000038945 ENSG00000038945 HGNC:7376 MSTN gene MSTN Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Muscle hypertrophy, MIM# 614160 15215484 False 1 0;0;100 1.2304 True ENSG00000138379 ENSG00000138379 HGNC:4223 MT-TP gene MT-TP Expert Review Red;Victorian Clinical Genetics Services Mendeliome MITOCHONDRIAL False 1 0;0;0 1.2304 True ENSG00000210196 ENSG00000210196 HGNC:7494 MUC5B gene MUC5B Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500 21506741;21506748 False 1 0;0;100 1.2304 True ENSG00000117983 ENSG00000117983 HGNC:7516 MUC7 gene MUC7 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Asthma, protection against} MIM#600807 False 1 0;0;100 1.2304 True ENSG00000171195 ENSG00000171195 HGNC:7518 MXI1 gene MXI1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000119950 ENSG00000119950 HGNC:7534 MYADML2 gene MYADML2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles 32778762 False 1 0;0;100 1.2304 True ENSG00000185105 ENSG00000185105 HGNC:34548 MYBPC2 gene MYBPC2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Fetal akinesia;Hydrops;Hygroma;Multiple pterygium 32732226 False 1 0;0;100 1.2304 True ENSG00000086967 ENSG00000086967 HGNC:7550 MYC gene MYC Expert Review Red;Victorian Clinical Genetics Services Mendeliome Other Burkitt lymphoma, somatic, MIM# 113970 False 1 0;0;100 1.2304 True ENSG00000136997 ENSG00000136997 HGNC:7553 MYEF2 gene MYEF2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000104177 ENSG00000104177 HGNC:17940 MYF6 gene MYF6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy, MONDO:0018947 11053684 False 1 0;0;100 1.2304 True ENSG00000111046 ENSG00000111046 HGNC:7566 MYH1 gene MYH1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis, MONDO:0005290 33755318 False 1 0;0;100 1.2304 True ENSG00000109061 ENSG00000109061 HGNC:7567 MYH7B gene MYH7B Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000078814 ENSG00000078814 HGNC:15906 MYLK2 gene MYLK2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 1, digenic, 192600 11733062;24082139;25825456;20301725 False 1 0;0;100 1.2304 True ENSG00000101306 ENSG00000101306 HGNC:16243 MYO1A gene MYO1A Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000166866 ENSG00000166866 HGNC:7595 MYO1H gene MYO1H Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482 28779001 False 1 0;0;100 1.2304 True ENSG00000174527 ENSG00000174527 HGNC:13879 MYOF gene MYOF Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-7 (HAE7), MIM#619366 32542751 False 1 0;0;100 1.2304 True ENSG00000138119 ENSG00000138119 HGNC:3656 MYOM1 gene MYOM1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 27600940;26656175;21256114 False 1 0;0;100 1.2304 True ENSG00000101605 ENSG00000101605 HGNC:7613 MYOZ2 gene MYOZ2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 16 MIM#613838 17347475;18591919;28296734;30681346;22987565 False 1 0;0;100 1.2304 True ENSG00000172399 ENSG00000172399 HGNC:1330 NAA30 gene NAA30 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092, NAA30-related PMID: 37387332 False 1 0;0;0 1.2304 True ENSG00000139977 ENSG00000139977 HGNC:19844 NAT2 gene NAT2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal [Acetylation, slow] - MIM#243400 22409928;33932406 False 1 0;0;100 1.2304 True ENSG00000156006 ENSG00000156006 HGNC:7646 NAT6 gene NAT6 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Auroneurodental syndrome, MIM# 620830 34805998 False 1 0;0;100 1.2304 True ENSG00000243477 ENSG00000243477 HGNC:30252 NAT8L gene NAT8L Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency - MIM#614063 11310630;19807691;32275776 False 1 0;50;50 1.2304 True ENSG00000185818 ENSG00000185818 HGNC:26742 NCAPH gene NCAPH Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Microcephaly 23, primary, autosomal recessive 617985 27737959 False 1 0;0;100 1.2304 True ENSG00000121152 ENSG00000121152 HGNC:1112 NCOA3 gene NCOA3 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-syndromic hearing loss 33326993 False 1 0;0;100 1.2304 True ENSG00000124151 ENSG00000124151 HGNC:7670 NCOA4 gene NCOA4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000138293 ENSG00000266412 HGNC:7671 NCR3 gene NCR3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000204475 ENSG00000204475 HGNC:19077 NDN gene NDN Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Prader-Willi syndrome, MIM# 176270 False 1 0;0;100 1.2304 True ENSG00000182636 ENSG00000182636 HGNC:7675 NDUFA7 gene NDUFA7 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Optic atrophy, MONDO:0003608, NDUFA7-related False 1 0;0;100 1.2304 True ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFAF7 gene NDUFAF7 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pathologic myopia 28837730 False 1 0;0;100 1.2304 True ENSG00000003509 ENSG00000003509 HGNC:28816 NDUFS5 gene NDUFS5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000168653 ENSG00000168653 HGNC:7712 NFE2L1 gene NFE2L1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease, MONDO:0002254 35112409 False 1 0;0;100 1.2304 True ENSG00000082641 ENSG00000082641 HGNC:7781 NFKBID gene NFKBID Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 26973645;25347393;22761313 False 1 0;0;100 1.2304 True ENSG00000167604 ENSG00000167604 HGNC:15671 NFKBIL1 gene NFKBIL1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Rheumatoid arthritis, susceptibility to} - MIM#180300 False 1 0;0;100 1.2304 True ENSG00000204498 ENSG00000204498 HGNC:7800 NHLH2 gene NHLH2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755 35066646 False 1 0;0;100 1.2304 True ENSG00000177551 ENSG00000177551 HGNC:7818 NIN gene NIN Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 7, MIM#614851 22933543 False 1 0;0;100 1.2304 True ENSG00000100503 ENSG00000100503 HGNC:14906 NKX2-3 gene NKX2-3 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intestinal varicosities 31498527 False 1 0;0;100 1.2304 True ENSG00000119919 ENSG00000119919 HGNC:7836 NLGN1 gene NLGN1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal intellectual disability;autism 30460678 False 1 0;0;100 1.2304 True ENSG00000169760 ENSG00000169760 HGNC:14291 NME3 gene NME3 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypotonia;Neurodegeneration;Abnormal mitochondrial dynamics 30587587 False 1 0;0;100 1.2304 True ENSG00000103024 ENSG00000103024 HGNC:7851 NME8 gene NME8 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 6, MIM# 610852 17360648 False 1 0;0;100 1.2304 True ENSG00000086288 ENSG00000086288 HGNC:16473 NOL3 gene NOL3 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus, familial, 1 MIM#614937 22926851 False 1 0;0;100 1.2304 True ENSG00000140939 ENSG00000140939 HGNC:7869 NOS2 gene NOS2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Malaria, resistance to} 611162;Disseminated CMV disease 12433515;31995689 False 1 0;0;100 1.2304 True ENSG00000007171 ENSG00000007171 HGNC:7873 NOS3 gene NOS3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Hypertension, susceptibility to}, MIM#145500;{Ischemic stroke, susceptibility to}, MIM# 601367;{Hypertension, pregnancy-induced}, MIM# 189800 24986538;28084234;33652340 False 1 0;0;100 1.2304 True ENSG00000164867 ENSG00000164867 HGNC:7876 NOX1 gene NOX1 Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Inflammatory bowel disease, MONDO:0005265, NOX1-related 29091079;32064493 False 1 0;100;0 1.2304 False ENSG00000007952 ENSG00000007952 HGNC:7889 NPAS2 gene NPAS2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Non-obstructive azoospermia 25956372 False 1 0;0;100 1.2304 True ENSG00000170485 ENSG00000170485 HGNC:7895 NPPC gene NPPC Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted short stature and non-specific skeletal anomalies - MONDO#0014551 28661490;32528716 False 1 0;0;100 1.2304 True ENSG00000163273 ENSG00000163273 HGNC:7941 NPSR1 gene NPSR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Asthma, susceptibility to, 2} 608584" False 1 0;0;100 1.2304 True ENSG00000187258 ENSG00000187258 HGNC:23631 NR0B2 gene NR0B2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Obesity, mild, early-onset, MIM# 601665" False 1 0;0;100 1.2304 True ENSG00000131910 ENSG00000131910 HGNC:7961 NR2E1 gene NR2E1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000112333 ENSG00000112333 HGNC:7973 NR4A3 gene NR4A3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000119508 ENSG00000119508 HGNC:7982 NSMF gene NSMF Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838 15362570;17235395;21700882 False 1 0;0;100 1.2304 True ENSG00000165802 ENSG00000165802 HGNC:29843 NTF4 gene NTF4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1, open angle, 1O - MIIM#613100 20806036;19765683;22815630 False 1 0;0;100 1.2304 True ENSG00000225950 ENSG00000225950 HGNC:8024 NTNG1 gene NTNG1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000162631 ENSG00000162631 HGNC:23319 NUF2 gene NUF2 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted microcephaly;short stature;bilateral vocal cord paralysis;micrognathia;atrial septal defect PMID: 33721060 False 1 0;0;100 1.2304 True ENSG00000143228 ENSG00000143228 HGNC:14621 NUP205 gene NUP205 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 13, MIM#616893 26878725 False 1 0;0;100 1.2304 True ENSG00000155561 ENSG00000155561 HGNC:18658 NUP37 gene NUP37 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Nephrotic syndrome;Microcephaly 24, primary, autosomal recessive, MIM# 618179" 30179222 False 1 0;0;100 1.2304 True ENSG00000075188 ENSG00000075188 HGNC:29929 OGG1 gene OGG1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cell carcinoma, clear cell, somatic MIM#144700 10987279;29305130 False 1 0;0;100 1.2304 True ENSG00000114026 ENSG00000114026 HGNC:8125 OPCML gene OPCML Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Ovarian cancer, somatic, MIM#167000 False 1 0;0;100 1.2304 True ENSG00000183715 ENSG00000183715 HGNC:8143 OR2J3 gene OR2J3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000204701 ENSG00000204701 HGNC:8261 ORMDL3 gene ORMDL3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000172057 ENSG00000172057 HGNC:16038 OSR1 gene OSR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000143867 ENSG00000143867 HGNC:8111 OSTC gene OSTC Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation PMID: 32267060 False 1 0;0;100 1.2304 True ENSG00000198856 ENSG00000198856 HGNC:24448 OXSR1 gene OXSR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000172939 ENSG00000172939 HGNC:8508 P4HA1 gene P4HA1 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Joint hypermobility;Contractures;Hypotonia;Mild skeletal dysplasia without bone fragility;High myopia 28419360 False 1 0;0;100 1.2304 True ENSG00000122884 ENSG00000122884 HGNC:8546 PACRG gene PACRG Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 31116684;31182890;14737177;27193298 False 1 0;0;100 1.2304 True ENSG00000112530 ENSG00000112530 HGNC:19152 PACSIN1 gene PACSIN1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Systemic lupus erythematosus, MONDO:0007915, PACSIN1-related 36622335 False 1 0;0;100 1.2304 True ENSG00000124507 ENSG00000124507 HGNC:8570 PADI4 gene PADI4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Susceptibility to rheumatoid arthritis 16449362;19470526;26474773 False 1 0;0;100 1.2304 True ENSG00000159339 ENSG00000159339 HGNC:18368 PAICS gene PAICS Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Polyhydramnios;multiple congenital abnormalities 31600779 False 1 0;0;100 1.2304 True ENSG00000128050 ENSG00000128050 HGNC:8587 PAK6 gene PAK6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000137843 ENSG00000137843 HGNC:16061 PALLD gene PALLD Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000129116 ENSG00000129116 HGNC:17068 PAX4 gene PAX4 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young, type IX MIM#612225;Diabetes mellitus, type 2, MIM# 125853 17426099;14561778;25951767;21263211 False 1 75;0;25 1.2304 True ENSG00000106331 ENSG00000106331 HGNC:8618 PCDH10 gene PCDH10 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism 27567313;18621663 False 1 0;0;100 1.2304 True ENSG00000138650 ENSG00000138650 HGNC:13404 PCSK2 gene PCSK2 Expert Review Red;Other Mendeliome Unknown diabetes mellitus MONDO:0005015 26607656;7698505;17618154 False 1 0;0;100 1.2304 False ENSG00000125851 ENSG00000125851 HGNC:8744 PDCD1 gene PDCD1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal "Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004" 34183838 False 1 0;0;100 1.2304 True ENSG00000188389 ENSG00000188389 HGNC:8760 PDE11A gene PDE11A Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475 16767104;18559625;21047926;17178847 False 1 0;0;100 1.2304 True ENSG00000128655 ENSG00000128655 HGNC:8773 PDGFD gene PDGFD Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension MONDO:0015924, PDGFD-related 33187088;33971972 False 1 0;0;100 1.2304 True ENSG00000170962 ENSG00000170962 HGNC:30620 PDGFRL gene PDGFRL Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000104213 ENSG00000104213 HGNC:8805 PDHA2 gene PDHA2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure-70, MIM#619828 29581481;35172124 False 1 0;0;100 1.2304 True ENSG00000163114 ENSG00000163114 HGNC:8807 PDIA2 gene PDIA2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bicuspid aortic valve 20098615 False 1 0;0;100 1.2304 True ENSG00000185615 ENSG00000185615 HGNC:14180 PDIA5 gene PDIA5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000065485 ENSG00000065485 HGNC:24811 PDLIM3 gene PDLIM3 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy 30681346;26455666;20801532 False 1 0;0;100 1.2304 True ENSG00000154553 ENSG00000154553 HGNC:20767 PER2 gene PER2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Advanced sleep phase syndrome, familial, 1 - MIM#604348 33474825;31527662;11232563;10408444;11395012;11232563 False 1 0;0;100 1.2304 True ENSG00000132326 ENSG00000132326 HGNC:8846 PET117 gene PET117 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063;Developmental delay;Regression;Complex IV deficiency 28386624 False 1 0;0;100 1.2304 True ENSG00000232838 ENSG00000232838 HGNC:40045 PHF11 gene PHF11 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000136147 ENSG00000136147 HGNC:17024 PHYKPL gene PHYKPL Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal [?Phosphohydroxylysinuria] 615011 23242558 False 1 0;0;100 1.2304 True ENSG00000175309 ENSG00000175309 HGNC:28249 PIGF gene PIGF Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 33386993 False 1 0;0;100 1.2304 True ENSG00000151665 ENSG00000151665 HGNC:8962 PIK3R5 gene PIK3R5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3, OMIM #615217 22065524 False 1 0;0;100 1.2304 True ENSG00000141506 ENSG00000141506 HGNC:30035 PITPNM3 gene PITPNM3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000091622 ENSG00000091622 HGNC:21043 PLA2G7 gene PLA2G7 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Platelet-activating factor acetylhydrolase deficiency MIM#614278 3198761;10733466;25587968;28406212 False 1 0;0;100 1.2304 True ENSG00000146070 ENSG00000146070 HGNC:9040 PLCB3 gene PLCB3 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961" 29122926 False 1 0;0;100 1.2304 True ENSG00000149782 ENSG00000149782 HGNC:9056 PLEK gene PLEK Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Deafness, autosomal dominant 58 MIM#615654" 32337552;19159392 False 1 0;0;100 1.2304 True ENSG00000115956 ENSG00000115956 HGNC:9070 PLEKHN1 gene PLEKHN1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Sensory Neuropathy 33884296 False 1 0;0;100 1.2304 True ENSG00000187583 ENSG00000187583 HGNC:25284 PLXNC1 gene PLXNC1 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malformations of cortical development 36808730 False 1 0;0;100 1.2304 True ENSG00000136040 ENSG00000136040 HGNC:9106 PMEL gene PMEL Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism, PMEL-related MONDO:0018910 36166100;36207673 False 1 0;0;100 1.2304 True ENSG00000185664 ENSG00000185664 HGNC:10880 PNPLA3 gene PNPLA3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Susceptibility to nonalcoholic fatty liver disease 18820647 False 1 0;0;100 1.2304 True ENSG00000100344 ENSG00000100344 HGNC:18590 PNPLA4 gene PNPLA4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females 26741492 False 1 0;0;100 1.2304 True ENSG00000006757 ENSG00000006757 HGNC:24887 POLE2 gene POLE2 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Lymphopaenia;Lack of TRECS, absent proliferation in response to antigens;Hypoglobulinaemia;Recurrent infections, disseminated BCG infections;Autoimmunity;Facial dysmorphism 26365386 False 1 0;0;100 1.2304 True ENSG00000100479 ENSG00000100479 HGNC:9178 POLR3F gene POLR3F Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872 30211253 False 1 0;0;100 1.2304 True ENSG00000132664 ENSG00000132664 HGNC:15763 PON1 gene PON1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Coronary artery disease, susceptibility to} False 1 0;0;100 1.2304 True ENSG00000005421 ENSG00000005421 HGNC:9204 POU5F1 gene POU5F1 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 21273125 False 1 0;0;100 1.2304 True ENSG00000204531 ENSG00000204531 HGNC:9221 POU6F2 gene POU6F2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000106536 ENSG00000106536 HGNC:21694 PPA1 gene PPA1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MONDO:0018116 37999237 False 1 0;0;100 1.2304 True ENSG00000180817 ENSG00000180817 HGNC:9226 PPARA gene PPARA Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hyperapobetalipoproteinemia, susceptibility to} False 1 0;0;100 1.2304 True ENSG00000186951 ENSG00000186951 HGNC:9232 PPCDC gene PPCDC Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal dilated cardiomyopathy MONDO:0005021 36564894 False 1 0;0;100 1.2304 True ENSG00000138621 ENSG00000138621 HGNC:28107 PPIA gene PPIA Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis, MONDO:0004976 PMID: 34972208 False 1 0;0;100 1.2304 True ENSG00000196262 ENSG00000196262 HGNC:9253 PPID gene PPID Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stutter disorder, (MONDO:0000723), PPID-related 37977818 False 1 0;0;100 1.2304 True ENSG00000171497 ENSG00000171497 HGNC:9257 PPM1E gene PPM1E Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000175175 ENSG00000175175 HGNC:19322 PPM1F gene PPM1F Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal sclerosing cholangitis;short stature;hypothyroidism;abnormal tongue pigmentation PMID: 30250217 False 1 0;0;100 1.2304 True ENSG00000100034 ENSG00000100034 HGNC:19388 PPP1R3A gene PPP1R3A Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Insulin resistance, severe, digenic 125853 29948331;12118251;18232732 False 1 0;0;100 1.2304 True ENSG00000154415 ENSG00000154415 HGNC:9291 PPP3R1 gene PPP3R1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Deafness, autosomal dominant 58 MIM#615654" 32337552;19159392 False 1 0;0;100 1.2304 True ENSG00000221823 ENSG00000221823 HGNC:9317 PRDM10 gene PRDM10 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birt-Hogg-Dube syndrome 2, MIM# 620459 36440963 False 1 0;0;100 1.2304 True ENSG00000170325 ENSG00000170325 HGNC:13995 PRDM8 gene PRDM8 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 10 MIM#616640 2296154;35034233 False 1 0;0;100 1.2304 True ENSG00000152784 ENSG00000152784 HGNC:13993 PRICKLE1 gene PRICKLE1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, MIM# 612437 34597683;30564977;30345727;29790814;26727662;31035234 False 1 0;0;100 1.2304 True ENSG00000139174 ENSG00000139174 HGNC:17019 PRICKLE3 gene PRICKLE3 Expert Review Red;Literature Mendeliome X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Leber s hereditary optic neuropathy MIM#535000 32516135 False 1 0;100;0 1.2304 True ENSG00000012211 ENSG00000012211 HGNC:6645 PRIMA1 gene PRIMA1 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Frontal Lobe Epilepsy MONDO:0002612 26339676 False 1 0;0;100 1.2304 True ENSG00000175785 ENSG00000175785 HGNC:18319 PRIMPOL gene PRIMPOL Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopia 22, autosomal dominant, MIM# 615420 23579484;25262353;27230014;32375772 False 1 33;0;67 1.2304 True ENSG00000164306 ENSG00000164306 HGNC:26575 PRKACG gene PRKACG Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 19, MIM# 616176 25061177;30819905 False 1 0;0;100 1.2304 True ENSG00000165059 ENSG00000165059 HGNC:9382 PRKCH gene PRKCH Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000027075 ENSG00000027075 HGNC:9403 PRMT9 gene PRMT9 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0100500, PRMT9-related PMID: 38561334 False 1 0;0;100 1.2304 True ENSG00000164169 ENSG00000164169 HGNC:25099 PRODH2 gene PRODH2 ClinGen;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal hydroxyprolinemia MONDO:0009374 27139199 False 1 0;0;100 1.2304 True ENSG00000250799 ENSG00000250799 HGNC:17325 PROSER1 gene PROSER1 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, PROSER1-related 35229282 False 1 0;0;100 1.2304 True ENSG00000120685 ENSG00000120685 HGNC:20291 PSMA5 gene PSMA5 Expert Review Red;Literature Mendeliome Other Inborn error of immunity, MONDO:0003778, PSMA5-related;PRAAS/CANDLE 37600812 False 1 0;0;100 1.2304 True ENSG00000143106 ENSG00000143106 HGNC:9534 PSMC1 gene PSMC1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071 PMID: 35861243 False 1 0;50;50 1.2304 True ENSG00000100764 ENSG00000100764 HGNC:9547 PSMC2 gene PSMC2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000161057 ENSG00000161057 HGNC:9548 PSMG2 gene PSMG2 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal "Proteasome-associated autoinflammatory syndrome 4, MIM# 619183;CANDLE syndrome;Chronic atypical neutrophilic dermatitis with lipodystrophy" 30664889 False 1 0;0;100 1.2304 True ENSG00000128789 ENSG00000128789 HGNC:24929 PTBP1 gene PTBP1 Expert Review Red;Literature Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000011304 ENSG00000011304 HGNC:9583 PTCD1 gene PTCD1 Expert Review Red;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy 25058219 False 1 0;0;100 1.2304 True ENSG00000106246 ENSG00000106246 HGNC:22198 PTCH2 gene PTCH2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal cell carcinoma, somatic 605462;Basal cell nevus syndrome, 109400;Medulloblastoma, somatic 30820324;23479190;18285427 False 1 0;0;100 1.2304 True ENSG00000117425 ENSG00000117425 HGNC:9586 PTGDR gene PTGDR Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Asthma, susceptibility to, 1} 607277 False 1 0;0;100 1.2304 True ENSG00000168229 ENSG00000168229 HGNC:9591 PTPN22 gene PTPN22 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 1.2304 True ENSG00000134242 ENSG00000134242 HGNC:9652 PTPRR gene PTPRR Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000153233 ENSG00000153233 HGNC:9680 PUS10 gene PUS10 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 100;0;0 1.2304 True ENSG00000162927 ENSG00000162927 HGNC:26505 PYROXD2 gene PYROXD2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 35055180 False 1 0;0;100 1.2304 True ENSG00000119943 ENSG00000119943 HGNC:23517 RAB35 gene RAB35 Expert Review Red;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal familial hypercholesterolemia MONDO:0005439;neurodevelopmental disorder MONDO:0700092 38432637;36928819 False 1 0;0;100 1.2304 True ENSG00000111737 ENSG00000111737 HGNC:9774 RABL2A gene RABL2A Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted male infertility;ciliopathy 33075816;24825419 False 1 0;0;100 1.2304 True ENSG00000144134 ENSG00000144134 HGNC:9799 RACGAP1 gene RACGAP1 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789 34818416 False 1 0;0;100 1.2304 True ENSG00000161800 ENSG00000161800 HGNC:9804 RAD51D gene RAD51D Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast-ovarian cancer, familial, susceptibility to, 4} 614291 28646019;31937788;26057125 False 1 0;0;100 1.2304 True ENSG00000185379 ENSG00000185379 HGNC:9823 RANBP17 gene RANBP17 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000204764 ENSG00000204764 HGNC:14428 RCC1L gene RCC1L Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True - ENSG00000274523 HGNC:14948 RDH14 gene RDH14 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RDH14-related 34848785 False 1 0;0;100 1.2304 True ENSG00000240857 ENSG00000240857 HGNC:19979 REPS1 gene REPS1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 7 , MIM# 617916 29395073 False 1 0;0;100 1.2304 True ENSG00000135597 ENSG00000135597 HGNC:15578 RFC2 gene RFC2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000049541 ENSG00000049541 HGNC:9970 RGR gene RGR Expert Review Red;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 44, MIM# 613769 10581022;30347075;27748892;27623334 False 1 0;0;100 1.2304 True ENSG00000148604 ENSG00000148604 HGNC:9990 RGS10 gene RGS10 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency;short stature 34315806;34339853 False 1 0;0;100 1.2304 True ENSG00000148908 ENSG00000148908 HGNC:9992 RGS6 gene RGS6 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RGS6-related 38332109;25525169 False 1 0;0;100 1.2304 True ENSG00000182732 ENSG00000182732 HGNC:10002 RIC3 gene RIC3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000166405 ENSG00000166405 HGNC:30338 RING1 gene RING1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;intellectual disability 29386386 False 1 0;0;100 1.2304 True ENSG00000204227 ENSG00000204227 HGNC:10018 RNF135 gene RNF135 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000181481 ENSG00000181481 HGNC:21158 RNF139 gene RNF139 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cell carcinoma MIM#144700 9689122 False 1 0;0;100 1.2304 True ENSG00000170881 ENSG00000170881 HGNC:17023 RNF212 gene RNF212 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Recombination rate QTL 1, MIM#612042;Spermatogenic failure 62, MIM# 619673 18239089;29277047;31125047;23396135 False 1 0;0;100 1.2304 True ENSG00000178222 ENSG00000178222 HGNC:27729 RNF6 gene RNF6 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000127870 ENSG00000127870 HGNC:10069 RP9 gene RP9 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 9 MIM#180104 16799052;16671097 False 1 0;0;100 1.2304 True ENSG00000164610 ENSG00000164610 HGNC:10288 RPL27 gene RPL27 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 16, MIM# 617408 25424902 False 1 0;0;100 1.2304 True ENSG00000131469 ENSG00000131469 HGNC:10328 RPL35 gene RPL35 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 19, MIM# 618312 28280134 False 1 0;0;100 1.2304 True ENSG00000136942 ENSG00000136942 HGNC:10344 RPS15 gene RPS15 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related 19061985 False 1 0;0;100 1.2304 True ENSG00000115268 ENSG00000115268 HGNC:10388 RPS15A gene RPS15A Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 20, MIM# 618313 27909223 False 1 0;0;100 1.2304 True ENSG00000134419 ENSG00000134419 HGNC:10389 RPS27 gene RPS27 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 17, MIM# 617409 25424902 False 1 0;0;100 1.2304 True ENSG00000177954 ENSG00000177954 HGNC:10416 RXFP2 gene RXFP2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Cryptorchidism 31167797;20963592 False 1 67;0;33 1.2304 True ENSG00000133105 ENSG00000133105 HGNC:17318 SALL3 gene SALL3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000256463 ENSG00000256463 HGNC:10527 SCD gene SCD Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Adrenoleukodystrophy PMID: 33690217;10899171 False 1 0;0;100 1.2304 True ENSG00000099194 ENSG00000099194 HGNC:10571 SCD5 gene SCD5 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 79, MIM#619086 31972369 False 1 0;0;100 1.2304 True ENSG00000145284 ENSG00000145284 HGNC:21088 SCN7A gene SCN7A Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Holoprosencephaly 32732226 False 1 0;0;100 1.2304 True ENSG00000136546 ENSG00000136546 HGNC:10594 SCRIB gene SCRIB Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 24140112;23922697 False 1 0;0;100 1.2304 True ENSG00000180900 ENSG00000180900 HGNC:30377 SELP gene SELP Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000174175 ENSG00000174175 HGNC:10721 SEMA3D gene SEMA3D Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hand and foot malformations;Hirschsprung disease 34159400 False 1 0;0;100 1.2304 True ENSG00000153993 ENSG00000153993 HGNC:10726 SERPINA11 gene SERPINA11 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal pericardial effusion;pleural effusion 38831697 False 1 0;0;100 1.2304 True ENSG00000186910 ENSG00000186910 HGNC:19193 SEZ6 gene SEZ6 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related 34135477 False 1 0;0;100 1.2304 True ENSG00000063015 ENSG00000063015 HGNC:15955 SFTPD gene SFTPD Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Interstitial lung disease 9751757 False 1 0;0;100 1.2304 True ENSG00000133661 ENSG00000133661 HGNC:10803 SGK3 gene SGK3 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypophosphatemic rickets 31821448 False 1 0;0;100 1.2304 True ENSG00000104205 ENSG00000104205 HGNC:10812 SGO2 gene SGO2 Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 27629923 False 1 0;0;100 1.2304 True ENSG00000163535 ENSG00000163535 HGNC:30812 SHOX2 gene SHOX2 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sinus Node Dysfunction;Atrial Fibrillation 30443179 False 1 0;0;100 1.2304 True ENSG00000168779 ENSG00000168779 HGNC:10854 SIAE gene SIAE Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000110013 ENSG00000110013 HGNC:18187 SIRT1 gene SIRT1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autoimmune disease, MONDO:0007179 23473037 False 1 0;0;100 1.2304 True ENSG00000096717 ENSG00000096717 HGNC:14929 SIX2 gene SIX2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 24429398 False 1 0;0;0 1.2304 True ENSG00000170577 ENSG00000170577 HGNC:10888 SLC10A2 gene SLC10A2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Bile acid malabsorption, primary, MIM# 613291 9109432 False 1 0;0;100 1.2304 True ENSG00000125255 ENSG00000125255 HGNC:10906 SLC11A1 gene SLC11A1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Buruli ulcer, susceptibility to}, MIM#610446;{Mycobacterium tuberculosis, susceptibility to infection by} , MIM#607948 35140349 False 1 0;0;100 1.2304 True ENSG00000018280 ENSG00000018280 HGNC:10907 SLC14A1 gene SLC14A1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [Blood group, Kidd], MIM#111000 28065763;27834480 False 1 0;0;100 1.2304 True ENSG00000141469 ENSG00000141469 HGNC:10918 SLC15A4 gene SLC15A4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 25238095 False 1 0;0;100 1.2304 True ENSG00000139370 ENSG00000139370 HGNC:23090 SLC17A3 gene SLC17A3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [Uric acid concentration, serum, QTL4], MIM# 612671, {Gout susceptibility 4}, MIM#612671 34290818;20810651 False 1 0;0;100 1.2304 True ENSG00000124564 ENSG00000124564 HGNC:10931 SLC22A4 gene SLC22A4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown susceptibility to rheumatoid arthritis MIM#180300 15184985;24972750 False 1 0;0;100 1.2304 True ENSG00000197208 ENSG00000197208 HGNC:10968 SLC26A1 gene SLC26A1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrolithiasis, calcium oxalate, MIM#167030 27210743;20160351;30383413;27125215 False 1 0;33;67 1.2304 True ENSG00000145217 ENSG00000145217 HGNC:10993 SLC26A6 gene SLC26A6 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Primary hyperoxaluria, MONDO:0002474, SLC26A6-related 35115415;21170874;32660969 False 1 0;0;100 1.2304 True ENSG00000225697 ENSG00000225697 HGNC:14472 SLC27A5 gene SLC27A5 Expert Review Red;Literature;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000083807 ENSG00000083807 HGNC:10999 SLC2A3 gene SLC2A3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000059804 ENSG00000059804 HGNC:11007 SLC2A4 gene SLC2A4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000181856 ENSG00000181856 HGNC:11009 SLC2A4RG gene SLC2A4RG Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000125520 ENSG00000125520 HGNC:15930 SLC2A8 gene SLC2A8 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;0 1.2304 True ENSG00000136856 ENSG00000136856 HGNC:13812 SLC30A8 gene SLC30A8 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Diabetes mellitus, noninsulin-dependent, susceptibility to}, MIM# 125853 17293876 False 1 0;0;100 1.2304 True ENSG00000164756 ENSG00000164756 HGNC:20303 SLC39A12 gene SLC39A12 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, SLC39A12-related PMID: 35486108 False 1 0;0;100 1.2304 True ENSG00000148482 ENSG00000148482 HGNC:20860 SLC3A2 gene SLC3A2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Autism 31701662 False 1 0;0;100 1.2304 True ENSG00000168003 ENSG00000168003 HGNC:11026 SLC41A1 gene SLC41A1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 2, MIM# 619468 23661805 False 1 0;0;100 1.2304 True ENSG00000133065 ENSG00000133065 HGNC:19429 SLC51A gene SLC51A Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 6, MIM# 619484 31863603 False 1 0;0;100 1.2304 True ENSG00000163959 ENSG00000163959 HGNC:29955 SLC51B gene SLC51B Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Bile acid malabsorption, primary, 2, MIM# 619481;Congenital diarrhoea;Cholestasis 28898457 False 1 0;0;100 1.2304 True ENSG00000186198 ENSG00000186198 HGNC:29956 SLC6A2 gene SLC6A2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orthostatic intolerance, MIM# 604715 10684912 False 1 0;0;100 1.2304 True ENSG00000103546 ENSG00000103546 HGNC:11048 SLC6A20 gene SLC6A20 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperglycinuria, MIM# 138500 24816252;19033659;36820062 False 1 50;0;50 1.2304 True ENSG00000163817 ENSG00000163817 HGNC:30927 SLC6A4 gene SLC6A4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Obsessive-compulsive disorder}, MIM# 164230;depression;alcohol dependence 31629822 False 1 0;0;100 1.2304 True ENSG00000108576 ENSG00000108576 HGNC:11050 SLC7A14 gene SLC7A14 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 68, MIM# MIM#615725 31921845;30924391;24670872 False 1 0;0;100 1.2304 True ENSG00000013293 ENSG00000013293 HGNC:29326 SLC7A5 gene SLC7A5 Expert Review Red;Other Mendeliome Unknown Large neutral amino acid transporter deficiency (MIM#600182) 29884839 False 1 0;0;100 1.2304 True ENSG00000103257 ENSG00000103257 HGNC:11063 SLC7A6OS gene SLC7A6OS Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 12, MIM# 619191 33085104 False 1 0;0;100 1.2304 True ENSG00000103061 ENSG00000103061 HGNC:25807 SLC9A3R1 gene SLC9A3R1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 18784102 False 1 0;0;100 1.2304 True ENSG00000109062 ENSG00000109062 HGNC:11075 SLC9A9 gene SLC9A9 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism susceptibility 16, MIM# 613410 18621663;14569117;27123481;26185613 False 1 0;0;100 1.2304 True ENSG00000181804 ENSG00000181804 HGNC:20653 SLIRP gene SLIRP Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy with complex I and IV deficiency 34426662 False 1 0;0;100 1.2304 True ENSG00000119705 ENSG00000119705 HGNC:20495 SLITRK1 gene SLITRK1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tourette syndrome, MIM# 137580 17304708;35140465;26317387 False 1 0;0;100 1.2304 True ENSG00000178235 ENSG00000178235 HGNC:20297 SMAD1 gene SMAD1 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension 21898662;23478097 False 1 0;100;0 1.2304 True ENSG00000170365 ENSG00000170365 HGNC:6767 SMAD7 gene SMAD7 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Colorectal cancer, susceptibility to, 3} 612229 False 1 0;0;100 1.2304 True ENSG00000101665 ENSG00000101665 HGNC:6773 SMARCA1 gene SMARCA1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability 26740508;26539891;29249292 False 1 0;0;100 1.2304 True ENSG00000102038 ENSG00000102038 HGNC:11097 SMIM1 gene SMIM1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Blood group, Vel system MIM#615264 False 1 0;0;100 1.2304 True ENSG00000235169 ENSG00000235169 HGNC:44204 SMPDL3A gene SMPDL3A Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Sensory Neuropathy 33884296 False 1 0;0;0 1.2304 True ENSG00000172594 ENSG00000172594 HGNC:17389 SNX3 gene SNX3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000112335 ENSG00000112335 HGNC:11174 SOBP gene SOBP Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 21035105 False 1 0;0;100 1.2304 True ENSG00000112320 ENSG00000112320 HGNC:29256 SOD2 gene SOD2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Microvascular complications of diabetes 6} 612634;Lethal neonatal dilated cardiomyopathy 31494578 False 1 0;0;100 1.2304 True ENSG00000112096 ENSG00000112096 HGNC:11180 SOHLH2 gene SOHLH2 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 24524832;19014927 False 1 0;0;100 1.2304 True ENSG00000120669 ENSG00000120669 HGNC:26026 SORT1 gene SORT1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Low density lipoprotein cholesterol level QTL6] 613589 False 1 0;0;100 1.2304 True ENSG00000134243 ENSG00000134243 HGNC:11186 SOX8 gene SOX8 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), SOX8-related https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088 False 1 0;0;100 1.2304 True ENSG00000005513 ENSG00000005513 HGNC:11203 SPAG17 gene SPAG17 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 55, MIM#619380 28548327 False 1 0;0;100 1.2304 True ENSG00000155761 ENSG00000155761 HGNC:26620 SPAG7 gene SPAG7 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome, MONDO:0018540 24452265 False 1 0;0;100 1.2304 True ENSG00000091640 ENSG00000091640 HGNC:11216 SPARCL1 gene SPARCL1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, MONDO:0018102 39169229 False 1 0;0;100 1.2304 True ENSG00000152583 ENSG00000152583 HGNC:11220 SPTBN5 gene SPTBN5 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related;Sacral agenesis;congenital anomalies 35782384;32732226;28007035 False 1 0;0;100 1.2304 True ENSG00000137877 ENSG00000137877 HGNC:15680 SRPX2 gene SRPX2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643 16497722;23933820;23871722 False 1 0;0;100 1.2304 True ENSG00000102359 ENSG00000102359 HGNC:30668 STEAP3 gene STEAP3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anaemia, hypochromic microcytic, with iron overload 2, MIM# 615234 22031863;25515317;26675350 False 1 0;0;100 1.2304 True ENSG00000115107 ENSG00000115107 HGNC:24592 STK33 gene STK33 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 93, MIM#620849 34155512;29155043 False 1 0;0;100 1.2304 True ENSG00000130413 ENSG00000130413 HGNC:14568 STK36 gene STK36 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 46, MIM# 619436 28543983 False 1 0;0;100 1.2304 True ENSG00000163482 ENSG00000163482 HGNC:17209 STOX1 gene STOX1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Preeclampsia/eclampsia 4 (MIM#609404) 15806103;17290274;30548667;33301424 False 1 0;0;100 1.2304 True ENSG00000165730 ENSG00000165730 HGNC:23508 STT3B gene STT3B Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ix 615597 23842455 False 1 0;0;100 1.2304 True ENSG00000163527 ENSG00000163527 HGNC:30611 STX2 gene STX2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000111450 ENSG00000111450 HGNC:3403 SUMO1 gene SUMO1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Cleft lip and palate 25111678;18983974;22522387 False 1 0;0;100 1.2304 True ENSG00000116030 ENSG00000116030 HGNC:12502 SUMO4 gene SUMO4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Diabetes mellitus, insulin-dependent, 5} 600320 15123604 False 1 0;0;100 1.2304 True ENSG00000177688 ENSG00000177688 HGNC:21181 SUPT7L gene SUPT7L Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, MONDO:0006573, SUPT7L-related PMID: 38592547 False 1 0;0;100 1.2304 True ENSG00000119760 ENSG00000119760 HGNC:30632 SV2B gene SV2B Expert Review Red;Literature Mendeliome Unknown seizures 23617838;23937191 False 1 0;0;100 1.2304 True ENSG00000185518 ENSG00000185518 HGNC:16874 SYN3 gene SYN3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000185666 ENSG00000185666 HGNC:11496 SYNE2 gene SYNE2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999 32184094;17761684 False 1 0;0;100 1.2304 True ENSG00000054654 ENSG00000054654 HGNC:17084 SYT14 gene SYT14 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229 21835308 False 1 0;0;100 1.2304 True ENSG00000143469 ENSG00000143469 HGNC:23143 T gene T Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Sacral agenesis with vertebral anomalies, MIM# 615709 24253444;28116192 False 1 0;0;100 1.2304 True ENSG00000164458 ENSG00000164458 HGNC:11515 TAF11 gene TAF11 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cleft lip MONDO:0004747 39727181 False 1 0;0;100 1.2304 True ENSG00000064995 ENSG00000064995 HGNC:11544 TAS2R16 gene TAS2R16 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956 False 1 0;0;100 1.2304 True ENSG00000128519 ENSG00000128519 HGNC:14921 TAS2R38 gene TAS2R38 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [Phenylthiocarbamide tasting] 171200 False 1 0;0;100 1.2304 True ENSG00000257138 ENSG00000257138 HGNC:9584 TBC1D31 gene TBC1D31 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal congenital anomaly of kidney and urinary tract MONDO:0019719 PMID: 37468454 False 1 0;0;100 1.2304 True ENSG00000156787 ENSG00000156787 HGNC:30888 TBL1Y gene TBL1Y Expert Review Red;Literature Mendeliome Other Deafness, Y-linked 2, MIM# 400047 30341416 False 1 0;0;100 1.2304 True ENSG00000092377 ENSG00000092377 HGNC:18502 TCF21 gene TCF21 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000118526 ENSG00000118526 HGNC:11632 TCF7L1 gene TCF7L1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypopituitarism 26764381 False 1 0;0;100 1.2304 True ENSG00000152284 ENSG00000152284 HGNC:11640 TCHH gene TCHH Expert Review Red;Literature;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Uncombable hair syndrome 3 MIM#617252 27866708 False 1 0;0;100 1.2304 True ENSG00000159450 ENSG00000159450 HGNC:11791 TDGF1 gene TDGF1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Forebrain abnormalities 12073012 False 1 0;0;100 1.2304 True ENSG00000241186 ENSG00000241186 HGNC:11701 TDO2 gene TDO2 Expert list;Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypertryptophanemia MIM#600627;Disorders of histidine, tryptophan or lysine metabolism 28285122;27604308 False 1 0;0;100 1.2304 True ENSG00000151790 ENSG00000151790 HGNC:11708 TECR gene TECR Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive, MIM#614020 21212097 False 1 0;0;100 1.2304 True ENSG00000099797 ENSG00000099797 HGNC:4551 TENM1 gene TENM1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000009694 ENSG00000009694 HGNC:8117 TGM6 gene TGM6 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 35, MIM# 613908 30670339;32426513 False 1 0;0;100 1.2304 True ENSG00000166948 ENSG00000166948 HGNC:16255 THAP11 gene THAP11 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, cblC type-like, MIM# 620940;Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related 28449119 False 1 0;0;100 1.2304 True ENSG00000168286 ENSG00000168286 HGNC:23194 TIMM44 gene TIMM44 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000104980 ENSG00000104980 HGNC:17316 TIRAP gene TIRAP Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000150455 ENSG00000150455 HGNC:17192 TLR1 gene TLR1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223 False 1 0;0;100 1.2304 True ENSG00000174125 ENSG00000174125 HGNC:11847 TLR2 gene TLR2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000137462 ENSG00000137462 HGNC:11848 TLR4 gene TLR4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease MONDO:0005265 32042729;31442584;31083239 False 1 0;0;100 1.2304 True ENSG00000136869 ENSG00000136869 HGNC:11850 TLR5 gene TLR5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000187554 ENSG00000187554 HGNC:11851 TMLHE gene TMLHE Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females {Autism, susceptibility to, X-linked 6}, MIM#300872 21865298 False 1 100;0;0 1.2304 True ENSG00000185973 ENSG00000185973 HGNC:18308 TMPO gene TMPO Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000120802 ENSG00000120802 HGNC:11875 TMPRSS9 gene TMPRSS9 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal autism spectrum disorder 31943016 False 1 0;0;100 1.2304 True ENSG00000178297 ENSG00000178297 HGNC:30079 TNF gene TNF Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 26117714 False 1 0;0;100 1.2304 True ENSG00000232810 ENSG00000232810 HGNC:11892 TNFRSF10B gene TNFRSF10B Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Squamous cell carcinoma, head and neck MIM#275355 9721851 False 1 0;0;100 1.2304 True ENSG00000120889 ENSG00000120889 HGNC:11905 TNFRSF21 gene TNFRSF21 Expert Review Red;Other Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown high myopia PMID: 31189563 False 1 0;0;100 1.2304 True ENSG00000146072 ENSG00000146072 HGNC:13469 TNFRSF4 gene TNFRSF4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 16, MIM# 615593 23897980 False 1 0;0;100 1.2304 True ENSG00000186827 ENSG00000186827 HGNC:11918 TNFSF12 gene TNFSF12 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent infections, poor antibody responses, decreased immunoglobulins 23493554 False 1 0;50;50 1.2304 True ENSG00000239697 ENSG00000239697 HGNC:11927 TNFSF13 gene TNFSF13 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related 32298700 False 1 0;0;100 1.2304 True ENSG00000161955 ENSG00000161955 HGNC:11928 TNFSF4 gene TNFSF4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Myocardial infarction, susceptibility to} 608446 False 1 0;0;100 1.2304 True ENSG00000117586 ENSG00000117586 HGNC:11934 TNFSF9 gene TNFSF9 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related 35657354 False 1 0;0;100 1.2304 True ENSG00000125657 ENSG00000125657 HGNC:11939 TNRC6A gene TNRC6A Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Epilepsy, familial adult myoclonic, 6 MIM#618074 PMID: 29507423;33040085 False 1 0;0;100 1.2304 True ENSG00000090905 ENSG00000090905 HGNC:11969 TOGARAM2 gene TOGARAM2 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related PMID:38374469 False 1 0;0;100 1.2304 True ENSG00000189350 ENSG00000189350 HGNC:33715 TOM1 gene TOM1 Expert list;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 85 and autoimmunity, MIM# 619510 31263572 False 1 0;0;100 1.2304 True ENSG00000100284 ENSG00000100284 HGNC:11982 TPCN2 gene TPCN2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267 20197744;26918892 False 1 0;50;50 1.2304 True ENSG00000162341 ENSG00000162341 HGNC:20820 TPH2 gene TPH2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003 18347598 False 1 0;0;100 1.2304 True ENSG00000139287 ENSG00000139287 HGNC:20692 TPMT gene TPMT Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Thiopurines, poor metabolism of, 1} 610460 False 1 0;0;100 1.2304 True ENSG00000137364 ENSG00000137364 HGNC:12014 TPR gene TPR Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 34494102 False 1 0;0;100 1.2304 True ENSG00000047410 ENSG00000047410 HGNC:12017 TPTE2P5 gene TPTE2P5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000168852 ENSG00000168852 HGNC:42356 TRIM24 gene TRIM24 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000122779 ENSG00000122779 HGNC:11812 TRIM27 gene TRIM27 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown parkinson's disease False 1 0;0;100 1.2304 True ENSG00000204713 ENSG00000204713 HGNC:9975 TRIM33 gene TRIM33 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000197323 ENSG00000197323 HGNC:16290 TRIM47 gene TRIM47 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic cerebral small vessel disease MONDO:0018787 35511193 False 1 0;0;100 1.2304 True ENSG00000132481 ENSG00000132481 HGNC:19020 TRIM69 gene TRIM69 Expert list;Expert Review Red Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Susceptibility to herpes simplex encephalitis 22105173 False 1 0;0;100 1.2304 True ENSG00000185880 ENSG00000185880 HGNC:17857 TRPV5 gene TRPV5 Expert Review Red;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal TRPV5-related hypercalciuria (MONDO:0009550) 38528055;14679186 False 1 0;0;100 1.2304 True ENSG00000127412 ENSG00000127412 HGNC:3145 TSEN34 gene TSEN34 Expert list;Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C, MIM# 612390 18711368 False 1 0;0;100 1.2304 True ENSG00000170892 ENSG00000170892 HGNC:15506 TSR1 gene TSR1 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted idiopathic spontaneous coronary artery dissection MONDO:0007385 31296288;31296287 False 1 0;0;100 1.2304 True ENSG00000167721 ENSG00000167721 HGNC:25542 TSR2 gene TSR2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 24942156 False 1 0;0;100 1.2304 True ENSG00000158526 ENSG00000158526 HGNC:25455 TTF2 gene TTF2 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital hypothyroidism, thyroid dysgenesis, No OMIM # 30022773 False 1 0;0;100 1.2304 True ENSG00000116830 ENSG00000116830 HGNC:12398 TTLL10 gene TTLL10 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000162571 ENSG00000162571 HGNC:26693 UBE2U gene UBE2U Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinoschisis;cataracts;learning disabilities;developmental delay PMID: 33776059 False 1 0;0;100 1.2304 True ENSG00000177414 ENSG00000177414 HGNC:28559 UCP3 gene UCP3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Obesity, severe, and type II diabetes}, MIM#601665 10618503;11238538;21544083 False 1 0;0;100 1.2304 True ENSG00000175564 ENSG00000175564 HGNC:12519 UGGT1 gene UGGT1 Expert Review Red;Literature Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000136731 ENSG00000136731 HGNC:15663 UGT1A4 gene UGT1A4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000244474 ENSG00000244474 HGNC:12536 UGT2B17 gene UGT2B17 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000197888 ENSG00000197888 HGNC:12547 UHRF1 gene UHRF1 Expert Review;Expert Review Red Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multi locus imprinting disturbance in offspring;chromosome instability 29574422;28976982;36458887 False 1 0;0;100 1.2304 True ENSG00000034063 ENSG00000276043 HGNC:12556 UNC13B gene UNC13B Expert Review;Expert Review Red Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy 33876820 False 1 0;0;100 1.2304 True ENSG00000198722 ENSG00000198722 HGNC:12566 UPK3A gene UPK3A Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown CAKUT 22558067 False 1 0;0;100 1.2304 True ENSG00000100373 ENSG00000100373 HGNC:12580 USF1 gene USF1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000158773 ENSG00000158773 HGNC:12593 USP33 gene USP33 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypertension MONDO:0001105 36928819 False 1 0;100;0 1.2304 True ENSG00000077254 ENSG00000077254 HGNC:20059 UTP4 gene UTP4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal North American Indian childhood cirrhosis 12417987;27535533 False 1 0;0;100 1.2304 True ENSG00000141076 ENSG00000141076 HGNC:1983 UTS2B gene UTS2B Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000188958 ENSG00000188958 HGNC:30894 VANGL1 gene VANGL1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Caudal regression syndrome, MIM# 600145;{Neural tube defects, susceptibility to} 182940 17409324 False 1 0;0;100 1.2304 True ENSG00000173218 ENSG00000173218 HGNC:15512 VANGL2 gene VANGL2 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neural tube defects, MIM# 182940 20558380;20738329;34842271 False 1 0;0;100 1.2304 True ENSG00000162738 ENSG00000162738 HGNC:15511 VAV1 gene VAV1 Expert Review;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Common variable immnodeficiency 20638113;23058036 False 1 0;0;100 1.2304 True ENSG00000141968 ENSG00000141968 HGNC:12657 VAX1 gene VAX1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 11, MIM# 614402 22095910 False 1 0;0;100 1.2304 True ENSG00000148704 ENSG00000148704 HGNC:12660 VEGFA gene VEGFA Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown {Microvascular complications of diabetes 1} 603933 False 1 0;0;100 1.2304 True ENSG00000112715 ENSG00000112715 HGNC:12680 VTN gene VTN Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atypical haemolytic uraemic syndrome 30377230 False 1 0;0;100 1.2304 True ENSG00000109072 ENSG00000109072 HGNC:12724 VWA3B gene VWA3B Expert list;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 22 MIM#616948 26157035 False 1 0;0;100 1.2304 True ENSG00000168658 ENSG00000168658 HGNC:28385 WASHC3 gene WASHC3 Expert Review Red;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, WASHC3 related DOI: https://doi.org/10.1016/j.gimo.2024.101915 False 1 50;0;50 1.2304 True ENSG00000120860 ENSG00000120860 HGNC:24256 WASL gene WASL Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Parkinson's disease, MONDO:0005180, WASL-related 33571872 False 1 0;0;100 1.2304 True ENSG00000106299 ENSG00000106299 HGNC:12735 WDR36 gene WDR36 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1, open angle, G, MIM# 609887 15677485;18172102;20813748 False 1 0;50;50 1.2304 True ENSG00000134987 ENSG00000134987 HGNC:30696 WNT3 gene WNT3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Tetra-amelia syndrome 1, MIM# 273395 14872406 False 1 0;0;100 1.2304 True ENSG00000108379 ENSG00000108379 HGNC:12782 XBP1 gene XBP1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 32294597;33325615 False 1 0;0;100 1.2304 True ENSG00000100219 ENSG00000100219 HGNC:12801 XG gene XG Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000124343 ENSG00000124343 HGNC:12806 XPO5 gene XPO5 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 26878725 False 1 0;100;0 1.2304 True ENSG00000124571 ENSG00000124571 HGNC:17675 XRCC3 gene XRCC3 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000126215 ENSG00000126215 HGNC:12830 YEATS2 gene YEATS2 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Epilepsy, myoclonic, familial adult, 4 MIM#615127 PMID: 22713812;31539032 False 1 0;0;100 1.2304 True ENSG00000163872 ENSG00000163872 HGNC:25489 YWHAZ gene YWHAZ Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071 36001342 False 1 0;0;100 1.2304 True ENSG00000164924 ENSG00000164924 HGNC:12855 ZAR1 gene ZAR1 Expert Review;Expert Review Red Mendeliome BIALLELIC, autosomal or pseudoautosomal Multi locus imprinting disturbance in offspring 29574422;31598710;12539046 False 1 0;0;100 1.2304 True ENSG00000182223 ENSG00000182223 HGNC:20436 ZDHHC15 gene ZDHHC15 Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked 91, 300577 34345675 False 1 0;0;100 1.2304 True ENSG00000102383 ENSG00000102383 HGNC:20342 ZFP36L1 gene ZFP36L1 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Oocyte maturation defect 13, MIM# 620154 34611029;22367205 False 1 0;0;100 1.2304 True ENSG00000185650 ENSG00000185650 HGNC:1107 ZFP42 gene ZFP42 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000179059 ENSG00000179059 HGNC:30949 ZFYVE27 gene ZFYVE27 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 33, autosomal dominant MIM#610244 16826525;29980238;18606302 False 1 0;0;100 1.2304 True ENSG00000155256 ENSG00000155256 HGNC:26559 ZIC4 gene ZIC4 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown 21204220;15338008 False 1 0;0;100 1.2304 True ENSG00000174963 ENSG00000174963 HGNC:20393 ZNF141 gene ZNF141 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A6, MIM# 615226 23160277 False 1 0;0;100 1.2304 True ENSG00000131127 ENSG00000131127 HGNC:12926 ZNF3 gene ZNF3 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Hydrocephalus;cleft palate;microphthalmia 32732226 False 1 0;0;100 1.2304 True ENSG00000166526 ENSG00000166526 HGNC:13089 ZNF365 gene ZNF365 Expert Review Red;Victorian Clinical Genetics Services Mendeliome Unknown False 1 0;0;100 1.2304 True ENSG00000138311 ENSG00000138311 HGNC:18194 ZNF41 gene ZNF41 Expert Review;Expert Review Red Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females non-syndromic X-linked intellectual disability MONDO:0019181 14628291;23871722 False 1 0;0;100 1.2304 True ENSG00000147124 ENSG00000147124 HGNC:13107 ZNF445 gene ZNF445 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Temple syndrome;Multi locus imprinting disturbance (MLID) 34039421;30602440;30846001 False 1 0;0;100 1.2304 True ENSG00000185219 ENSG00000185219 HGNC:21018 ZNF592 gene ZNF592 Expert Review Red;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 20531441;26123727 False 1 0;0;100 1.2304 True ENSG00000166716 ENSG00000166716 HGNC:28986 ZNF750 gene ZNF750 Expert Review Red;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227 22185198;16751772;22936986 False 1 0;0;100 1.2304 True ENSG00000141579 ENSG00000141579 HGNC:25843 ZNF81 gene ZNF81 Expert Review Red;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability 15121780 False 1 0;0;100 1.2304 True ENSG00000197779 ENSG00000197779 HGNC:13156 ZNF862 gene ZNF862 Expert Review Red;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary gingival fibromatosis MONDO:0016070 , ZNF862 -related PMID: 35142290 False 1 0;0;100 1.2304 True ENSG00000106479 ENSG00000106479 HGNC:34519 ZPR1 gene ZPR1 Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies 619321" 29851065 False 1 0;0;100 1.2304 True ENSG00000109917 ENSG00000109917 HGNC:13051