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 AASS gene AASS Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, MIM# 238700 23570448 False 2 0;100;0 1.4865 True ENSG00000008311 ENSG00000008311 HGNC:17366 ABCC1 gene ABCC1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness-77, autosomal dominant (DFNA77), MIM#618915 31273342 False 2 0;100;0 1.4865 True ENSG00000103222 ENSG00000103222 HGNC:51 ABCD3 gene ABCD3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 5 (MIM#616278) 25168382 False 2 0;100;0 1.4865 True ENSG00000117528 ENSG00000117528 HGNC:67 ABI2 gene ABI2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ABI2-related 40475134 False 2 0;100;0 1.4865 True ENSG00000138443 ENSG00000138443 HGNC:24011 ACACA gene ACACA Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Acetyl-CoA carboxylase deficiency MIM#613933 34552920;10677481;16717184 False 2 0;50;50 1.4865 True ENSG00000132142 ENSG00000278540 HGNC:84 ACADS gene ACADS Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470;MONDO:0008722 False 2 0;100;0 1.4865 True ENSG00000122971 ENSG00000122971 HGNC:90 ACKR3 gene ACKR3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Oculomotor-abducens synkinesis, MIM# 619215 PMID: 3121183 False 2 0;100;0 1.4865 True ENSG00000144476 ENSG00000144476 HGNC:23692 ACSF3 gene ACSF3 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria MIM#614265 21841779;30740739 False 2 0;100;0 1.4865 True ENSG00000176715 ENSG00000176715 HGNC:27288 ADAM23 gene ADAM23 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related (PMID: 40455867) False 2 0;100;0 1.4865 True ENSG00000114948 ENSG00000114948 HGNC:202 ADAMTS9 gene ADAMTS9 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related 30609407 False 2 50;50;0 1.4865 True ENSG00000163638 ENSG00000163638 HGNC:13202 ADCY10 gene ADCY10 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercalciuria, absorptive, susceptibility to MIM#143870;asthenozoospermia with absorptive hypercalciuria PMID: 11932268;31119281;25296721;32913531;34463764 False 2 0;100;0 1.4865 True ENSG00000143199 ENSG00000143199 HGNC:21285 ADD1 gene ADD1 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, ADD1-related PMID: 34906466 False 2 50;50;0 1.4865 True ENSG00000087274 ENSG00000087274 HGNC:243 ADIPOR1 gene ADIPOR1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, ADIPOR1-related;Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related 27655171;26662040;33523960 False 2 0;100;0 1.4865 True ENSG00000159346 ENSG00000159346 HGNC:24040 AFP gene AFP Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Alpha-fetoprotein deficiency MIM#615969;[Hereditary persistence of alpha-fetoprotein] MIM#615970 15280901;18854864, 14699509, 7684942 False 2 0;100;0 1.4865 True ENSG00000081051 ENSG00000081051 HGNC:317 AGAP1 gene AGAP1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy, MONDO:0006497, AGAP1-related 31700678;25666757;30472483 False 2 0;100;0 1.4865 True ENSG00000157985 ENSG00000157985 HGNC:16922 AGPAT3 gene AGPAT3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related 37821758 False 2 100;0;0 1.4865 True ENSG00000160216 ENSG00000160216 HGNC:326 AHR gene AHR Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 85 MIM#618345;Foveal hypoplasia 3, MIM# 620958 29726989;31896775;38922562 False 2 0;100;0 1.4865 True ENSG00000106546 ENSG00000106546 HGNC:348 AKAP3 gene AKAP3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 35228300;31969357 False 2 0;100;0 1.4865 False ENSG00000111254 ENSG00000111254 HGNC:373 AKAP6 gene AKAP6 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, AKAP6-related 28600779 False 2 0;100;0 1.4865 True ENSG00000151320 ENSG00000151320 HGNC:376 ALPI gene ALPI Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, MONDO:0005265, ALPI-related 29567797;32084423 False 2 0;100;0 1.4865 True ENSG00000163295 ENSG00000163295 HGNC:437 ANAPC7 gene ANAPC7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699 34942119 False 2 0;100;0 1.4865 True ENSG00000196510 ENSG00000196510 HGNC:17380 ANGPT1 gene ANGPT1 Expert Review Amber;Other Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-5 (HAE5), MIM#619361 28601681;24852101;30689269;10617467;8980224 False 2 0;100;0 1.4865 True ENSG00000154188 ENSG00000154188 HGNC:484 ANKZF1 gene ANKZF1 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related 28302725 False 2 75;25;0 1.4865 True ENSG00000163516 ENSG00000163516 HGNC:25527 ANLN gene ANLN Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal segmental glomerulosclerosis 8, OMIM #616032 24676636;30002222;34819827;38322629;37957688;41492027 False 2 0;100;0 1.4865 True ENSG00000011426 ENSG00000011426 HGNC:14082 ANO1 gene ANO1 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intestinal dysmotility syndrome, MIM# 620045;Moyamoya disease 7, MIM# 620687 32487539;37253099 False 2 0;100;0 1.4865 True ENSG00000131620 ENSG00000131620 HGNC:21625 ANXA5 gene ANXA5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391 PMID: 17339269;12665588;34878150 False 2 0;100;0 1.4865 True ENSG00000164111 ENSG00000164111 HGNC:543 AP1S3 gene AP1S3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Psoriasis 15, pustular, susceptibility to} 616106 24791904;27388993 False 2 0;100;0 1.4865 True ENSG00000152056 ENSG00000152056 HGNC:18971 APBB1 gene APBB1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Infertility disorder, MONDO:0005047, APBB1-related 40151319 False 2 0;100;0 1.4865 True ENSG00000166313 ENSG00000166313 HGNC:581 APOL1 gene APOL1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551;{End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551 29470556;20647424;24206458;20635188;33517446 False 2 0;100;0 1.4865 True ENSG00000100342 ENSG00000100342 HGNC:618 APOLD1 gene APOLD1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bleeding disorder, vascular-type (MIM#620715) 35638551 False 2 0;100;0 1.4865 True ENSG00000178878 ENSG00000178878 HGNC:25268 APOO gene APOO Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mitochondrial disease, MONDO:0044970, APOO-related;Developmental delay;Lactic acidosis;Muscle weakness;Hypotonia;Repetitive infections;Cognitive impairment;Autistic behaviour 32439808;37649161 False 2 0;50;50 1.4865 True ENSG00000184831 ENSG00000184831 HGNC:28727 AQP3 gene AQP3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal [Blood group GIL] MIM#607457 PMID: 10737773;12239222 False 2 0;100;0 1.4865 True ENSG00000165272 ENSG00000165272 HGNC:636 AQP4 gene AQP4 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 37143309 False 2 0;100;0 1.4865 True ENSG00000171885 ENSG00000171885 HGNC:637 ARAF gene ARAF Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphatic malformation, MONDO:0019313, ARAF-related 31263281 False 2 0;100;0 1.4865 True Other ENSG00000078061 ENSG00000078061 HGNC:646 ARAP3 gene ARAP3 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphoedema, MONDO:0019297, ARAP3-related 32908855 False 2 0;100;0 1.4865 True ENSG00000120318 ENSG00000120318 HGNC:24097 ARFGEF3 gene ARFGEF3 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, MONDO:0044807, ARFGEF3-related PMID: 33098801 False 2 50;50;0 1.4865 True ENSG00000112379 ENSG00000112379 HGNC:21213 ARHGAP36 gene ARHGAP36 Expert Review;Expert Review Amber Mendeliome X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Bazex-Dupre-Christol syndrome, MIM# 301845 35986704;40015599 False 2 0;100;0 1.4865 True Other ENSG00000147256 ENSG00000147256 HGNC:26388 ARHGEF1 gene ARHGEF1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 62, MIM#618459 30521495 False 2 0;50;50 1.4865 True ENSG00000076928 ENSG00000076928 HGNC:681 ARHGEF10 gene ARHGEF10 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Slowed nerve conduction velocity, MIM# 608236 14508709;21719701;25025039;29456827;25275565 False 2 0;100;0 1.4865 True Other ENSG00000104728 ENSG00000104728 HGNC:14103 ARHGEF38 gene ARHGEF38 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft lip/palate MONDO:0016044, ARHGEF38-related 36493769 False 2 0;100;0 1.4865 True ENSG00000236699 ENSG00000236699 HGNC:25968 ARHGEF40 gene ARHGEF40 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092 PMID: 39838643 False 2 0;50;50 1.4865 True ENSG00000165801 ENSG00000165801 HGNC:25516 ARID3A gene ARID3A Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related;Cornelia de Lange syndrome - MONDO:0016033 40677927;40774958 False 2 0;50;50 1.4865 True ENSG00000116017 ENSG00000116017 HGNC:3031 ARNT2 gene ARNT2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Webb-Dattani syndrome MONDO:0014404 11381139;24022475 False 2 0;100;0 1.4865 True ENSG00000172379 ENSG00000172379 HGNC:16876 ARPC3 gene ARPC3 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease MONDO:0015626 36928819;26166300;40011789 False 2 0;100;0 1.4865 True ENSG00000111229 ENSG00000111229 HGNC:706 ART4 gene ART4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal {Macular degeneration, age-related, 8} MIM#613778 PMID: 33675039;33206405 False 2 0;100;0 1.4865 True ENSG00000111339 ENSG00000111339 HGNC:726 ASAP2 gene ASAP2 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, ASAP2-related 40770811;28191890;33057194;35982160 False 2 0;100;0 1.4865 True ENSG00000151693 ENSG00000151693 HGNC:2721 ASCL1 gene ASCL1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, MIM# 209880 14532329 False 2 0;100;0 1.4865 True ENSG00000139352 ENSG00000139352 HGNC:738 ASCL5 gene ASCL5 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tooth disorder, MONDO:0006999, ASCL5-related 41673016 False 2 0;100;0 1.4865 True ENSG00000232237 ENSG00000232237 HGNC:33169 ASTN2 gene ASTN2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, ASTN2-related 28940097;34412080;27138430 False 2 0;100;0 1.4865 True ENSG00000148219 ENSG00000148219 HGNC:17021 ATAD2B gene ATAD2B Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ATAD2B-related 39313616 False 2 0;100;0 1.4865 True ENSG00000119778 ENSG00000119778 HGNC:29230 ATG5 gene ATG5 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 25 MIM#617584 16625204;26812546 False 2 0;100;0 1.4865 True ENSG00000057663 ENSG00000057663 HGNC:589 ATOH1 gene ATOH1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related 35518571 False 2 0;100;0 1.4865 True ENSG00000172238 ENSG00000172238 HGNC:797 ATP11C gene ATP11C Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hemolytic anemia, congenital, X-linked MIM#301015 41523080;40869043;37892263;37671681;26944472;37314652 False 2 0;100;0 1.4865 False ENSG00000101974 ENSG00000101974 HGNC:13554 ATP2B4 gene ATP2B4 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary spastic paraplegia, MONDO:0019064, ATP2B4-related 25119969;25798335;29691679 False 2 0;100;0 1.4865 True ENSG00000058668 ENSG00000058668 HGNC:817 ATP5B gene ATP5B Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 38, susceptibility to, MIM# 621502;Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 36860166;36239646;40276935 False 2 0;100;0 1.4865 True ENSG00000110955 ENSG00000110955 HGNC:830 ATXN2L gene ATXN2L Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092, ATXN2L-related 33283965;33057194 False 2 0;100;0 1.4865 True ENSG00000168488 ENSG00000168488 HGNC:31326 B3GNT2 gene B3GNT2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy, MONDO:0018276, B3GNT2-related 23359570;23877401 False 2 0;100;0 1.4865 True ENSG00000170340 ENSG00000170340 HGNC:15629 BANF1 gene BANF1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nestor-Guillermo progeria syndrome, MIM# 614008;Neurodevelopmental disorder, MONDO:0700092, BANF1-related;Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related 32783369;21549337;35982159;36980188 False 2 0;100;0 1.4865 True ENSG00000175334 ENSG00000175334 HGNC:17397 BAZ2B gene BAZ2B Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, BAZ2B-related 31999386;28135719;25363768;37872713 False 2 0;100;0 1.4865 True ENSG00000123636 ENSG00000123636 HGNC:963 BBOX1 gene BBOX1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, MONDO:0017716, BBOX1-related 41022783 False 2 0;100;0 1.4865 True ENSG00000129151 ENSG00000129151 HGNC:964 BCL9L gene BCL9L Expert list;Expert Review Amber;Literature;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal Heterotaxy syndrome, MONDO:0018677, BCL9L-related 23035047;8757136;30366904 False 2 0;100;0 1.4865 True ENSG00000186174 ENSG00000186174 HGNC:23688 BDNF gene BDNF Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Obesity disorder, MONDO:0011122, BDNF-related 41680086;37329217;33442278;32493978;30926952;28397838 False 2 0;100;0 1.4865 True ENSG00000176697 ENSG00000176697 HGNC:1033 BET1 gene BET1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with rapid progression, MIM# 254100 34779586 False 2 0;100;0 1.4865 True ENSG00000105829 ENSG00000105829 HGNC:14562 BICC1 gene BICC1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multicystic dysplastic kidney, MONDO:0015988;polycystic kidney disease, MONDO:0020642 21922595, 35005812, 39253489, 39655693, 41278337 False 2 0;50;50 1.4865 True ENSG00000122870 ENSG00000122870 HGNC:19351 BLVRA gene BLVRA Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperbiliverdinaemia , MIM#614156 19580635;21278388 False 2 0;100;0 1.4865 True ENSG00000106605 ENSG00000106605 HGNC:1062 BMP10 gene BMP10 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension 30578383 False 2 0;100;0 1.4865 True ENSG00000163217 ENSG00000163217 HGNC:20869 BMP3 gene BMP3 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted coloboma, MONDO:0001476;microphthalmia, MONDO:0021129 35089417 False 2 0;100;0 1.4865 True ENSG00000152785 ENSG00000152785 HGNC:1070 BMP6 gene BMP6 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Iron overload, susceptibility to} 620121 26582087;32464486 False 2 50;50;0 1.4865 True ENSG00000153162 ENSG00000153162 HGNC:1073 BNIP1 gene BNIP1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spondylopeiphyseal dysplasia, Holling type, MIM# 621345 35266227;31344970 False 2 0;100;0 1.4865 True ENSG00000113734 ENSG00000113734 HGNC:1082 BRCC3 gene BRCC3 Expert Review;Expert Review Amber Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females MoyaMoya Disease, syndromic, MONDO:0016820 21596366;33868155;35815106;39552268 False 2 0;100;0 1.4865 True ENSG00000185515 ENSG00000185515 HGNC:24185 BRDT gene BRDT Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure MONDO:0004983 32469048;28199965;22922464 False 2 0;100;0 1.4865 True ENSG00000137948 ENSG00000137948 HGNC:1105 BUB1 gene BUB1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Primary microcephaly-30 (MCPH30), MIM#620183 35044816;19772675;19117986;23209306 False 2 50;50;0 1.4865 True ENSG00000169679 ENSG00000169679 HGNC:1148 BUD13 gene BUD13 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Achalasia-progeroid syndrome, MIM# 621123 35670808 False 2 0;100;0 1.4865 True ENSG00000137656 ENSG00000137656 HGNC:28199 C11orf80 gene C11orf80 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, C11orf80-related;hydatidiform mole, recurrent, 4, MONDO:0032747 30388401;36732965;41644825;30388401 False 2 0;100;0 1.4865 True ENSG00000173715 ENSG00000173715 HGNC:26197 C17orf80 gene C17orf80 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 41720819 False 2 0;100;0 1.4865 True ENSG00000141219 ENSG00000141219 HGNC:29601 C1orf194 gene C1orf194 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, intermediate or demyelinating, MONDO:0015626, C1orf194-related 31199454;32592472 False 2 0;100;0 1.4865 True Other ENSG00000179902 ENSG00000179902 HGNC:32331 C2CD6 gene C2CD6 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Spermatogenic failure 68 , MIM# 619805" 34919125;34998468;31985809 False 2 0;100;0 1.4865 True ENSG00000155754 ENSG00000155754 HGNC:14438 C3orf52 gene C3orf52 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypotrichosis-15, MIM#620177 32336749 False 2 0;100;0 1.4865 True ENSG00000114529 ENSG00000114529 HGNC:26255 C4A gene C4A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal C4a deficiency MIM#614380;susceptibility systemic lupus erythematosus 22387014;22737222;15998580;10529130;15294999;32048120;40788338 False 2 0;100;0 1.4865 True ENSG00000244731 ENSG00000244731 HGNC:1323 C4B gene C4B Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal susceptibility to autoimmune disease;C4B deficiency MIM#614379 34764957;12626442;22387014;17503323;32048120 False 2 0;100;0 1.4865 True ENSG00000224389 ENSG00000224389 HGNC:1324 C4BPA gene C4BPA Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted recurrent pregnancy loss susceptibility MONDO:0000144, C4BPA-related 23508668 False 2 0;100;0 1.4865 True ENSG00000123838 ENSG00000123838 HGNC:1325 C7orf43 gene C7orf43 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Microcephaly 25, primary, autosomal recessive, MIM# 618351" 30715179 False 2 0;100;0 1.4865 True ENSG00000146826 ENSG00000146826 HGNC:25604 C8A gene C8A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type I MIM#613790 9759902;32769119 False 2 0;100;0 1.4865 True ENSG00000157131 ENSG00000157131 HGNC:1352 CACNB1 gene CACNB1 Expert list;Expert Review Amber;Other;Royal Melbourne Hospital Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital muscular dystrophy MONDO:0020121;Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related 27832566;8943043;29212769;41023410 False 2 0;33;67 1.4865 True ENSG00000067191 ENSG00000067191 HGNC:1401 CACNB4 gene CACNB4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM# 607682;{Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682;Episodic ataxia, type 5, MIM#613855" 10762541;9628818;27003325 False 2 0;100;0 1.4865 True ENSG00000182389 ENSG00000182389 HGNC:1404 CAMK2G gene CAMK2G Expert Review;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder, autosomal dominant 59 MIM# 618522" 30184290;23033978 False 2 0;100;0 1.4865 True ENSG00000148660 ENSG00000148660 HGNC:1463 CAPNS1 gene CAPNS1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related 38230350 False 2 0;100;0 1.4865 True ENSG00000126247 ENSG00000126247 HGNC:1481 CAPS gene CAPS Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Recurrent pregnancy loss, susceptibility to, MONDO:0000144, CAPS-related 30339840 False 2 0;100;0 1.4865 True ENSG00000105519 ENSG00000105519 HGNC:1487 CAPZA1 gene CAPZA1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047 41858859 False 2 0;100;0 1.4865 True ENSG00000116489 ENSG00000116489 HGNC:1488 CARD8 gene CARD8 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inflammatory bowel disease-30, MIM#619079 29408806 False 2 0;100;0 1.4865 True ENSG00000105483 ENSG00000105483 HGNC:17057 CASP10 gene CASP10 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type II MIM#603909 34329798;34384744;20301287 False 2 50;50;0 1.4865 True ENSG00000003400 ENSG00000003400 HGNC:1500 CASP14 gene CASP14 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 12 MIM#617320 27494380;23014340;17515931 False 2 0;100;0 1.4865 True ENSG00000105141 ENSG00000105141 HGNC:1502 CATSPER2 gene CATSPER2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal spermatogenic failure;non-syndromic hearing loss 17098888;30629171;12825070 False 2 0;100;0 1.4865 True ENSG00000166762 ENSG00000166762 HGNC:18810 CCDC113 gene CCDC113 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, CCDC113-related 41645397;41645397 False 2 0;100;0 1.4865 True ENSG00000103021 ENSG00000103021 HGNC:25002 CCDC141 gene CCDC141 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related 27014940;28324054;25192046 False 2 0;100;0 1.4865 True ENSG00000163492 ENSG00000163492 HGNC:26821 CCDC174 gene CCDC174 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816 26358778 False 2 0;100;0 1.4865 True ENSG00000154781 ENSG00000154781 HGNC:28033 CCDC28B gene CCDC28B Expert list;Expert Review Amber;Victorian Clinical Genetics Services Mendeliome Other {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 False 2 0;67;33 1.4865 True ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC50 gene CCDC50 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 44 MIM#607453 17503326;27911912;24875298 False 2 50;50;0 1.4865 True ENSG00000152492 ENSG00000152492 HGNC:18111 CCDC78 gene CCDC78 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy 4, MIM#614807 22818856 False 2 0;100;0 1.4865 True ENSG00000162004 ENSG00000162004 HGNC:14153 CCDC84 gene CCDC84 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 4 (MIM#620153) 34009673 False 2 0;100;0 1.4865 True ENSG00000186166 ENSG00000186166 HGNC:30460 CCDC89 gene CCDC89 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 40591933 False 2 0;100;0 1.4865 True ENSG00000179071 ENSG00000179071 HGNC:26762 CCDC91 gene CCDC91 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Punctate palmoplantar keratoderma type III MONDO:0007047 38627542 False 2 0;100;0 1.4865 True ENSG00000123106 ENSG00000123106 HGNC:24855 CCT5 gene CCT5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840 16399879;25124038;25345891 False 2 0;100;0 1.4865 True ENSG00000150753 ENSG00000150753 HGNC:1618 CD274 gene CD274 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235 38634869 False 2 0;100;0 1.4865 True ENSG00000120217 ENSG00000120217 HGNC:17635 CD28 gene CD28 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901;isolated susceptibility to cutaneous - and -HPVs 34214472 False 2 0;100;0 1.4865 True ENSG00000178562 ENSG00000178562 HGNC:1653 CD320 gene CD320 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646;Disorders of cobalamin absorption, transport and metabolism 29663633;27604308;30303736 False 2 0;0;0 1.4865 True ENSG00000167775 ENSG00000167775 HGNC:16692 CD8A gene CD8A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal CD8 deficiency, familial, MIM# 608957 11435463;17658607;26563160 False 2 0;100;0 1.4865 True ENSG00000153563 ENSG00000153563 HGNC:1706 CD96 gene CD96 Expert Review Amber;Genetic Health Queensland;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted C syndrome, MIM#211750 17847009 False 2 0;100;0 1.4865 True ENSG00000153283 ENSG00000153283 HGNC:16892 CDK6 gene CDK6 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Microcephaly 12, primary, autosomal recessive, MIM#616080 23918663;40801391 False 2 0;100;0 1.4865 True ENSG00000105810 ENSG00000105810 HGNC:1777 CDKL2 gene CDKL2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CDKL2-related PMID: 40088891 False 2 0;100;0 1.4865 True Other ENSG00000138769 ENSG00000138769 HGNC:1782 CDO1 gene CDO1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic disease, MONDO:0002254, CDO1-related 39949058 False 2 0;100;0 1.4865 True ENSG00000129596 ENSG00000129596 HGNC:1795 CELA3B gene CELA3B Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chronic pancreatitis, MONDO:0008185, CELA3B-related 31369399;33565216 False 2 0;100;0 1.4865 True Other ENSG00000219073 ENSG00000219073 HGNC:15945 CEP162 gene CEP162 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa MONDO:0019200, CEP162-related 36862503 False 2 0;100;0 1.4865 True ENSG00000135315 ENSG00000135315 HGNC:21107 CEP19 gene CEP19 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Morbid obesity and spermatogenic failure MIM#615703;Bardet-Biedl syndorme 29127258;24268657 False 2 0;100;0 1.4865 True ENSG00000174007 ENSG00000174007 HGNC:28209 CEP63 gene CEP63 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 6, MIM#614728 21983783;26158450 False 2 0;100;0 1.4865 True ENSG00000182923 ENSG00000182923 HGNC:25815 CEP89 gene CEP89 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM#220110 23575228 False 2 0;100;0 1.4865 True ENSG00000121289 ENSG00000121289 HGNC:25907 CETP gene CETP Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperalphalipoproteinemia MIM#143470;Disorders of high density lipoprotein metabolism 12070157;2586614;27604308;2215607;2390095 False 2 0;0;0 1.4865 True ENSG00000087237 ENSG00000087237 HGNC:1869 CFAP206 gene CFAP206 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 102, MIM# 621387 34255152 False 2 0;100;0 1.4865 True ENSG00000272514 ENSG00000272514 HGNC:21405 CHMP3 gene CHMP3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related PMID: 35710109 False 2 0;100;0 1.4865 True ENSG00000115561 ENSG00000115561 HGNC:29865 CHRM1 gene CHRM1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental delay;intellectual disability;autism 34212451;31981491;12483218 False 2 0;100;0 1.4865 True ENSG00000168539 ENSG00000168539 HGNC:1950 CHST11 gene CHST11 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167 26436107;29514872 False 2 0;100;0 1.4865 True ENSG00000171310 ENSG00000171310 HGNC:17422 CIZ1 gene CIZ1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 23 MIM#614860 27163549;29154038;22447717 False 2 0;100;0 1.4865 True ENSG00000148337 ENSG00000148337 HGNC:16744 CLCA2 gene CLCA2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted heart conduction disease MONDO:0000992 31326550 False 2 0;100;0 1.4865 True ENSG00000137975 ENSG00000137975 HGNC:2016 CLCC1 gene CLCC1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 32, MIM# 609913 30157172 False 2 0;100;0 1.4865 True ENSG00000121940 ENSG00000121940 HGNC:29675 CLCNKA gene CLCNKA Expert Review Amber;Victorian Clinical Genetics Services Mendeliome Other Bartter syndrome, type 4b, digenic;OMIM #613090 18310267;29254190 False 2 0;100;0 1.4865 True ENSG00000186510 ENSG00000186510 HGNC:2026 CLTCL1 gene CLTCL1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital insensitivity to pain 26068709;29402896;22511880;31354784 False 2 0;100;0 1.4865 True ENSG00000070371 ENSG00000070371 HGNC:2093 CMPK2 gene CMPK2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related 36443312 False 2 0;100;0 1.4865 True ENSG00000134326 ENSG00000134326 HGNC:27015 CNKSR1 gene CNKSR1 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related 30450701;30237576;21937992 False 2 0;100;0 1.4865 True ENSG00000142675 ENSG00000142675 HGNC:19700 CNTN6 gene CNTN6 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CNTN6-related;congenital hypothyroidism MONDO:0018612 30836150;28641109;29983269;38183624 False 2 0;50;50 1.4865 True ENSG00000134115 ENSG00000134115 HGNC:2176 COBLL1 gene COBLL1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft lip/palate MONDO:0016044, COBLL1-related 36493769 False 2 0;100;0 1.4865 True ENSG00000082438 ENSG00000082438 HGNC:23571 COG3 gene COG3 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIbb, MIM# 620546" PMID: 37711075 False 2 0;100;0 1.4865 True ENSG00000136152 ENSG00000136152 HGNC:18619 COPG1 gene COPG1 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 128, MIM# 620983 33529166 False 2 0;100;0 1.4865 True ENSG00000181789 ENSG00000181789 HGNC:2236 COPZ1 gene COPZ1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Neutropenia, severe congenital, 12, autosomal recessive MIM# 621439" 39642330 False 2 0;100;0 1.4865 True ENSG00000111481 ENSG00000111481 HGNC:2243 COX14 gene COX14 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053 22243966 False 2 0;100;0 1.4865 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX16 gene COX16 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355;Hypertrophic cardiomyopathy;encephalopathy;severe fatal lactic acidosis" 33169484 False 2 0;100;0 1.4865 True ENSG00000133983 ENSG00000133983 HGNC:20213 COX5A gene COX5A Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064;pulmonary arterial hypertension;lactic acidemia;failure to thrive;isolated complex IV deficiency 35246835;28247525 False 2 0;100;0 1.4865 True ENSG00000178741 ENSG00000178741 HGNC:2267 CPEB1 gene CPEB1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency, MONDO:0005387, CPEB1-related 34794894;33095795;32354341;30689869;11702780 False 2 0;100;0 1.4865 True ENSG00000214575 ENSG00000214575 HGNC:21744 CPT1C gene CPT1C Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 73, autosomal dominant MIM#616282;MONDO:0014568 25751282;23973755;30564185;41312619 False 2 50;50;0 1.4865 True ENSG00000169169 ENSG00000169169 HGNC:18540 CRAT gene CRAT Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 8, MIM# 617917;Leigh syndrome" 29395073;31448845 False 2 0;100;0 1.4865 True ENSG00000095321 ENSG00000095321 HGNC:2342 CRBN gene CRBN Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 2 MIM#607417 15557513;28143899 False 2 0;100;0 1.4865 True ENSG00000113851 ENSG00000113851 HGNC:30185 CREB3 gene CREB3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinal degeneration, MONDO:0004580, CREB3-related PMID: 40674075 False 2 50;50;0 1.4865 True ENSG00000107175 ENSG00000107175 HGNC:2347 CRIM1 gene CRIM1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, MONDO:0021129, CRIM1-related 40114969;33418956 False 2 0;100;0 1.4865 True ENSG00000150938 ENSG00000150938 HGNC:2359 CSNK1A1 gene CSNK1A1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Infantile spasms, MONDO:0018097, CSNK1A1-related 40156289 False 2 0;100;0 1.4865 True ENSG00000113712 ENSG00000113712 HGNC:2451 CSNK1D gene CSNK1D Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Advanced sleep-phase syndrome, familial, 2, MIM# 615224 15800623;23636092 False 2 0;100;0 1.4865 True ENSG00000141551 ENSG00000141551 HGNC:2452 CSNK1G1 gene CSNK1G1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related 33009664 False 2 0;100;0 1.4865 True ENSG00000169118 ENSG00000169118 HGNC:2454 CSTF2 gene CSTF2 Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 113, MIM# 301116 32816001 False 2 0;100;0 1.4865 True ENSG00000101811 ENSG00000101811 HGNC:2484 CTGF gene CTGF Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Kyphomelic dysplasia MONDO:0008881;Spondyloepimetaphyseal dysplasia MONDO:0100510 39506047;39414788;20534727 False 2 0;50;50 1.4865 True ENSG00000118523 ENSG00000118523 HGNC:2500 CTH gene CTH Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Cystathioninuria MIM#219500 12574942;20584029;24761004;15151507 False 2 50;50;0 1.4865 True ENSG00000116761 ENSG00000116761 HGNC:2501 CTNNA3 gene CTNNA3 ClinGen;Expert Review Amber;Expert Review Red Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia, familial, 13 MIM#615616 23136403;21254927;22421363;30415094;31539150 False 2 0;50;50 1.4865 True ENSG00000183230 ENSG00000183230 HGNC:2511 CTNNBL1 gene CTNNBL1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846 32484799 False 2 0;100;0 1.4865 True ENSG00000132792 ENSG00000132792 HGNC:15879 CTRC gene CTRC Expert Review Amber;Victorian Clinical Genetics Services Mendeliome Other {Pancreatitis, chronic, susceptibility to}, MIM#167800 18059268;18172691;28502372 False 2 0;100;0 1.4865 True ENSG00000162438 ENSG00000162438 HGNC:2523 CYP3A4 gene CYP3A4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vitamin D-dependent rickets-3, MIM#619073 38179381;29461981;36656330 False 2 50;50;0 1.4865 True Other ENSG00000160868 ENSG00000160868 HGNC:2637 DACT1 gene DACT1 Expert Review Amber;NHS GMS Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 2 (OMIM #617466) PMID: 28054444;22610794;19701191 False 2 0;50;50 1.4865 True ENSG00000165617 ENSG00000165617 HGNC:17748 DALRD3 gene DALRD3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy, 86 MONDO:0030054 32427860;39482881 False 2 0;100;0 1.4865 True ENSG00000178149 ENSG00000178149 HGNC:25536 DAND5 gene DAND5 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 13, autosomal, MIM# 621079 36316122;34215651 False 2 0;100;0 1.4865 True ENSG00000179284 ENSG00000179284 HGNC:26780 DAZL gene DAZL Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian failure, MONDO:0005387, DAZL-related 34794894;33095795;16884537;9288969 False 2 0;100;0 1.4865 True ENSG00000092345 ENSG00000092345 HGNC:2685 DCAF15 gene DCAF15 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related False 2 0;100;0 1.4865 True ENSG00000132017 ENSG00000132017 HGNC:25095 DCAF8 gene DCAF8 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Giant axonal neuropathy 2, autosomal dominant MIM#610100 24500646 False 2 0;100;0 1.4865 True ENSG00000132716 ENSG00000132716 HGNC:24891 DCXR gene DCXR Expert list;Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Pentosuria MIM#260800;Disorders of pentose metabolism 22042873 False 2 50;50;0 1.4865 True ENSG00000169738 ENSG00000169738 HGNC:18985 DGAT2 gene DGAT2 Expert Review;Expert Review Amber;Royal Melbourne Hospital Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related 26786738 False 2 0;100;0 1.4865 True ENSG00000062282 ENSG00000062282 HGNC:16940 DHRS3 gene DHRS3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Craniosynostosis-scoliosis syndrome, MIM# 621499 40519748 False 2 0;100;0 1.4865 True ENSG00000162496 ENSG00000162496 HGNC:17693 DHRS9 gene DHRS9 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Genetic epilepsy, MONDO:0100575, DHRS9 40945732;32752300;38256219 False 2 0;100;0 1.4865 True ENSG00000073737 ENSG00000073737 HGNC:16888 DHX32 gene DHX32 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, DHX32-related PMID: 32989326 False 2 0;100;0 1.4865 True ENSG00000089876 ENSG00000089876 HGNC:16717 DHX38 gene DHX38 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 84, MIM# 618220 24737827;30208423;35719279 False 2 50;50;0 1.4865 True ENSG00000140829 ENSG00000140829 HGNC:17211 DIO1 gene DIO1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thyroid hormone metabolism, abnormal, 2, MIM# 619855 32718224 False 2 0;100;0 1.4865 True ENSG00000211452 ENSG00000211452 HGNC:2883 DNAJA3 gene DNAJA3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, DNAJA3-related 34750646;30770860;41354729 False 2 0;100;0 1.4865 True ENSG00000103423 ENSG00000103423 HGNC:11808 DNAL1 gene DNAL1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16, MIM# 614017 21496787 False 2 0;100;0 1.4865 True ENSG00000119661 ENSG00000119661 HGNC:23247 DPYSL2 gene DPYSL2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual disability, MONDO:0001071, DPYSL2-related 27249678;35861646 False 2 0;100;0 1.4865 True ENSG00000092964 ENSG00000092964 HGNC:3014 DROSHA gene DROSHA Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092;hereditary hemorrhagic telangiectasia MONDO:0019180;idiopathic spontaneous coronary artery dissection MONDO:0007385 39654947;35405010;29339534 False 2 0;100;0 1.4865 True ENSG00000113360 ENSG00000113360 HGNC:17904 DSC3 gene DSC3 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypotrichosis and recurrent skin vesicles MIM#613102 19765682;31790667;18682494 False 2 0;100;0 1.4865 True ENSG00000134762 ENSG00000134762 HGNC:3037 DSG3 gene DSG3 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226 26763450;37850634;30528827 False 2 0;50;50 1.4865 True ENSG00000134757 ENSG00000134757 HGNC:3050 DSTYK gene DSTYK Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital anomalies of kidney and urinary tract 1, MIM# 610805;Spastic paraplegia 23, MIM# 270750 23862974;23862974;28618409;28157540;23862974 False 2 0;67;33 1.4865 True ENSG00000133059 ENSG00000133059 HGNC:29043 DUOXA1 gene DUOXA1 Expert Review;Expert Review Amber Mendeliome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal congenital hypothyroidism MONDO:0018612 29650690;39988947;36740391;31428054 False 2 0;100;0 1.4865 True ENSG00000140254 ENSG00000140254 HGNC:26507 DVL2 gene DVL2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome MONDO:0019978 35047859;33599851;30521570 False 2 0;100;0 1.4865 True ENSG00000004975 ENSG00000004975 HGNC:3086 DZIP1 gene DZIP1 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Mitral valve prolapse, MIM#610840;Spermatogenic failure 47, MIM# 619102" 31118289;32051257 False 2 0;100;0 1.4865 True ENSG00000134874 ENSG00000134874 HGNC:20908 EBF2 gene EBF2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, MONDO:0006573, EBF2-related 41615236;38978649;29704291 False 2 0;100;0 1.4865 True ENSG00000221818 ENSG00000221818 HGNC:19090 EDN1 gene EDN1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Auriculocondylar syndrome 3, MIM# 615706 23315542;23913798;24268655 False 2 0;100;0 1.4865 True ENSG00000078401 ENSG00000078401 HGNC:3176 EFCAB7 gene EFCAB7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Polydactyly (MONDO:0021003), EFCAB7-related PMID: 37684519 False 2 0;100;0 1.4865 True ENSG00000203965 ENSG00000203965 HGNC:29379 EGFLAM gene EGFLAM Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital stationary night blindness MONDO:0016293, EGFLAM-related 41343198;18641643 False 2 0;100;0 1.4865 True ENSG00000164318 ENSG00000164318 HGNC:26810 EHD1 gene EHD1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Inherited renal tubular disease, MONDO:0015962, EHD1-related 35149593 False 2 0;100;0 1.4865 True ENSG00000110047 ENSG00000110047 HGNC:3242 EIF2A gene EIF2A Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability, epilepsy;MONDO:0700092 PMID: 31130284 False 2 0;100;0 1.4865 True ENSG00000144895 ENSG00000144895 HGNC:3254 EIF3I gene EIF3I Expert Review Amber;Other Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder MONDO:0100038 False 2 0;100;0 1.4865 True ENSG00000084623 ENSG00000084623 HGNC:3272 EIF3K gene EIF3K Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal EIF3K-related neurodevelopmental disorder, MONDO:0700092 40219605 False 2 0;100;0 1.4865 True ENSG00000178982 ENSG00000178982 HGNC:24656 ELMSAN1 gene ELMSAN1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related False 2 0;100;0 1.4865 True ENSG00000156030 ENSG00000156030 HGNC:19853 EMG1 gene EMG1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Bowen-Conradi syndrome, MIM#211180 19463982;27798105;26676230;25708872 False 2 0;100;0 1.4865 True ENSG00000126749 ENSG00000126749 HGNC:16912 EMP2 gene EMP2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal nephrotic syndrome, type 10 MONDO:0014373;Ichthyosis, MONDO:0019269, EMP2-related 24814193;31508419 False 2 0;100;0 1.4865 True ENSG00000213853 ENSG00000213853 HGNC:3334 EPHA7 gene EPHA7 Expert Review;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092,EPHA7-related 34176129 False 2 0;100;0 1.4865 True ENSG00000135333 ENSG00000135333 HGNC:3390 EPHB2 gene EPHB2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 22, MIM# 618462 30213874;25370417 False 2 0;100;0 1.4865 True ENSG00000133216 ENSG00000133216 HGNC:3393 ERAL1 gene ERAL1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6, MIM# 617565" 28449065 False 2 0;100;0 1.4865 True ENSG00000132591 ENSG00000132591 HGNC:3424 ERBB2 gene ERBB2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Visceral neuropathy, familial, 2, autosomal recessive, MIM# 619465;Congenital heart disease - left ventricular outflow tract obstruction defects;MONDO:0005453" 40329538;33720042 False 2 0;33;67 1.4865 True ENSG00000141736 ENSG00000141736 HGNC:3430 ERBIN gene ERBIN Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Combined immunodeficiency, MONDO:0015131, ERBIN-related;Recurrent respiratory infections;Susceptibility to S.aureus;Eczema;Hyperextensible joints;Scoliosis;Arterial dilatation in some 28126831 False 2 0;100;0 1.4865 True ENSG00000112851 ENSG00000112851 HGNC:15842 ERGIC3 gene ERGIC3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092 PMID: 33710394;31585110 False 2 0;100;0 1.4865 True ENSG00000125991 ENSG00000125991 HGNC:15927 ESR2 gene ESR2 Expert list;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal 46,XY disorder of sex development;Ovarian dysgenesis 8, MIM# 618187 29261182;9861029;30113650 False 2 0;100;0 1.4865 True ENSG00000140009 ENSG00000140009 HGNC:3468 EXOC2 gene EXOC2 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306;Global developmental delay;Intellectual disability;Abnormality of the face;Abnormality of brain morphology 32639540 False 2 0;100;0 1.4865 True ENSG00000112685 ENSG00000112685 HGNC:24968 EXOSC10 gene EXOSC10 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly, MONDO:0001149, EXOSC10-related 41132091 False 2 0;100;0 1.4865 True ENSG00000171824 ENSG00000171824 HGNC:9138 EXOSC2 gene EXOSC2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 26843489;31628467 False 2 0;100;0 1.4865 True ENSG00000130713 ENSG00000130713 HGNC:17097 EXOSC4 gene EXOSC4 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 39009343;37961665;36344539 False 2 0;100;0 1.4865 True ENSG00000178896 ENSG00000178896 HGNC:18189 FAM20B gene FAM20B Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia MONDO:0015426 30847897;30105814;22732358;27405802 False 2 50;50;0 1.4865 True ENSG00000116199 ENSG00000116199 HGNC:23017 FBP2 gene FBP2 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, childhood-onset, remitting, MIM# 619864 33977262 False 2 0;100;0 1.4865 True ENSG00000130957 ENSG00000130957 HGNC:3607 FBXO38 gene FBXO38 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuropathy, distal hereditary motor, type IID, 615575;dHMN/dSMA 24207122;31420593 False 2 0;100;0 1.4865 True ENSG00000145868 ENSG00000145868 HGNC:28844 FCGR3A gene FCGR3A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 20, MIM# 615707 8874200;23006327;8608639 False 2 0;100;0 1.4865 True ENSG00000203747 ENSG00000203747 HGNC:3619 FEZF1 gene FEZF1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 22, with or without anosmia, MIM# 616030 25192046;32400067 False 2 0;100;0 1.4865 True ENSG00000128610 ENSG00000128610 HGNC:22788 FGD5 gene FGD5 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease - MONDO:0005453, FGD5-related 41574350;41199744;32037394;30232381 False 2 0;50;50 1.4865 True ENSG00000154783 ENSG00000154783 HGNC:19117 FGF20 gene FGF20 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 2, MIM#615721 22698282 False 2 0;100;0 1.4865 True ENSG00000078579 ENSG00000078579 HGNC:3677 FGF4 gene FGF4 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260 40259859 False 2 0;100;0 1.4865 True ENSG00000075388 ENSG00000075388 HGNC:3682 FGL2 gene FGL2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, FGL2-related 36243222 False 2 0;100;0 1.4865 True ENSG00000127951 ENSG00000127951 HGNC:3696 FHL2 gene FHL2 Expert Review;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, MONDO:0004994, FHL2-related 36854411;25358972 False 2 0;100;0 1.4865 True ENSG00000115641 ENSG00000115641 HGNC:3703 FKBP4 gene FKBP4 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 False 2 0;100;0 1.4865 True ENSG00000004478 ENSG00000004478 HGNC:3720 FKBP8 gene FKBP8 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown spina bifida HP:0002414 32969478 False 2 0;100;0 1.4865 True ENSG00000105701 ENSG00000105701 HGNC:3724 FLT3LG gene FLT3LG Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 125, MIM# 620926 38701783 False 2 0;33;67 1.4865 True ENSG00000090554 ENSG00000090554 HGNC:3766 FMN1 gene FMN1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Hearing loss disorder MONDO:0005365 20610440;19383632;15202026;36928819 False 2 0;100;0 1.4865 True ENSG00000248905 ENSG00000248905 HGNC:3768 FOXF2 gene FOXF2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal profound sensorineural hearing loss (SNHL);cochlea malformations;incomplete partition type I anomaly of the cochlea PMID: 30561639;22022403 False 2 0;100;0 1.4865 True ENSG00000137273 ENSG00000137273 HGNC:3810 FOXH1 gene FOXH1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease 18538293;19933292;32003456;12094232;16304598 False 2 0;100;0 1.4865 True ENSG00000160973 ENSG00000160973 HGNC:3814 FOXJ3 gene FOXJ3 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal epilepsy, MONDO:0005384, FOXJ3-related 41803108 False 2 0;100;0 1.4865 True ENSG00000198815 ENSG00000198815 HGNC:29178 FOXM1 gene FOXM1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Moyamoya disease, MONDO:0016820 38969938 False 2 0;100;0 1.4865 True ENSG00000111206 ENSG00000111206 HGNC:3818 FOXR1 gene FOXR1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Postnatal microcephaly, progressive brain atrophy and global developmental delay;Neurodevelopmental disorder MONDO:0700092 34723967 False 2 0;100;0 1.4865 True ENSG00000176302 ENSG00000176302 HGNC:29980 FRMD4A gene FRMD4A Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability;microcephaly;Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 25388005;30214071;34869127 False 2 50;50;0 1.4865 True ENSG00000151474 ENSG00000151474 HGNC:25491 FRY gene FRY Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092 31487712;27457812;21937992 False 2 0;100;0 1.4865 True ENSG00000073910 ENSG00000073910 HGNC:20367 FRYL gene FRYL Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pan-Chung-Bellen syndrome, MIM# 621049 38479391 False 2 67;33;0 1.4865 True ENSG00000075539 ENSG00000075539 HGNC:29127 FXYD2 gene FXYD2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypomagnesemia 2 MONDO:0007937 17980699;12763862;18448590;11062458;25765846;27014088 False 2 0;100;0 1.4865 True Other ENSG00000137731 ENSG00000137731 HGNC:4026 GAS2 gene GAS2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 125, MIM#620877 33964205 False 2 0;100;0 1.4865 True ENSG00000148935 ENSG00000148935 HGNC:4167 GATA5 gene GATA5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects, multiple types, 5 - #617912 28180938;27066509;34461831;30229885;28285006;25543888;25515806;24796370;23295592;23289003;22961344 False 2 0;100;0 1.4865 True ENSG00000130700 ENSG00000130700 HGNC:15802 GATB gene GATB Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal inborn mitochondrial metabolism disorder MONDO:0004069 30283131;38703036 False 2 0;50;50 1.4865 True ENSG00000059691 ENSG00000059691 HGNC:8849 GBP1 gene GBP1 Expert Review Amber;Literature Mendeliome Unknown Congenital hypothyroidism, MONDO:0018612 34194003 False 2 0;100;0 1.4865 True ENSG00000117228 ENSG00000117228 HGNC:4182 GCC2 gene GCC2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, GCC2-related 39813120 False 2 0;100;0 1.4865 True ENSG00000135968 ENSG00000135968 HGNC:23218 GGT1 gene GGT1 Expert Review Amber;Literature;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutathioninuria 231950 29483667;23615310;31520399 False 2 0;67;33 1.4865 True ENSG00000100031 ENSG00000100031 HGNC:4250 GINS4 gene GINS4 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal combined immunodeficiency MONDO:0015131 36345943;39914554;40510848 False 2 0;50;50 1.4865 True ENSG00000147536 ENSG00000147536 HGNC:28226 GJA5 gene GJA5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 11, OMIM# 614049 16790700;20818502;20650941;23348765 False 2 50;50;0 1.4865 True ENSG00000143140 ENSG00000265107 HGNC:4279 GNA13 gene GNA13 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ito hypomelanosis MONDO:0010302 39966435 False 2 0;100;0 1.4865 True Other ENSG00000120063 ENSG00000120063 HGNC:4381 GPN2 gene GPN2 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Perrault syndrome False 2 0;100;0 1.4865 True ENSG00000142751 ENSG00000142751 HGNC:25513 GPRASP1 gene GPRASP1 Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256 37787182 False 2 0;100;0 1.4865 True ENSG00000198932 ENSG00000198932 HGNC:24834 GREM1 gene GREM1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic intestinal polyposis MONDO:0018188 22561515;26493165;21128281;29804199 False 2 0;100;0 1.4865 True ENSG00000166923 ENSG00000166923 HGNC:2001 GREM2 gene GREM2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tooth agenesis, selective, 9 MONDO:0014999 26416033;28992378;24686385 False 2 0;100;0 1.4865 False ENSG00000180875 ENSG00000180875 HGNC:17655 GRWD1 gene GRWD1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital diarrhoea MONDO:0000824 40174224 False 2 0;100;0 1.4865 True ENSG00000105447 ENSG00000105447 HGNC:21270 GSR gene GSR Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660 17185460;31122244 False 2 0;100;0 1.4865 True ENSG00000104687 ENSG00000104687 HGNC:4623 GUCA1B gene GUCA1B Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 48, MIM# 613827 15452722;26161267 False 2 0;100;0 1.4865 True ENSG00000112599 ENSG00000112599 HGNC:4679 HAL gene HAL Expert Review Amber;Literature;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Histidinemia MIM#235800;Disorders of histidine, tryptophan or lysine metabolism 27604308;15806399;20156889 False 2 50;50;0 1.4865 True ENSG00000084110 ENSG00000084110 HGNC:4806 HAND2 gene HAND2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453, HAND2-related 26865696;32134193;26676105;30217752;20819618 False 2 0;100;0 1.4865 True ENSG00000164107 ENSG00000164107 HGNC:4808 HBS1L gene HBS1L Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinal disorder MONDO:0005283 38966981;24288412;30707697 False 2 0;100;0 1.4865 True ENSG00000112339 ENSG00000112339 HGNC:4834 HCK gene HCK Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 34536415 False 2 0;100;0 1.4865 True Other ENSG00000101336 ENSG00000101336 HGNC:4840 HEATR5B gene HEATR5B Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related PMID: 33824466 False 2 0;100;0 1.4865 True ENSG00000008869 ENSG00000008869 HGNC:29273 HELB gene HELB Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure, MONDO:0019852, HELB-related 41212051 False 2 0;100;0 1.4865 True ENSG00000127311 ENSG00000127311 HGNC:17196 HELQ gene HELQ Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency MONDO:0005387, HELQ-related 34794894;24005329;33095795 False 2 0;100;0 1.4865 True ENSG00000163312 ENSG00000163312 HGNC:18536 HEY2 gene HEY2 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Congenital heart disease, MONDO:0005453, HEY2-related;thoracic aortic aneurysms 32820247;40481234 False 2 0;100;0 1.4865 True ENSG00000135547 ENSG00000135547 HGNC:4881 HIST1H4D gene HIST1H4D Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, HIST1H4D-related MONDO:0700092 35202563 False 2 0;100;0 1.4865 True - - HGNC:4782 HIST1H4F gene HIST1H4F Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related PMID: 35202563 False 2 0;100;0 1.4865 True - - HGNC:4783 HIST1H4J gene HIST1H4J Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759 31804630;35202563 False 2 0;100;0 1.4865 True ENSG00000197238 ENSG00000197238 HGNC:4785 HOXA11 gene HOXA11 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432 11101832;16765069 False 2 0;100;0 1.4865 True ENSG00000005073 ENSG00000005073 HGNC:5101 HOXD12 gene HOXD12 Expert Review Amber;Other Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Clubfoot (non-syndromic) MONDO:0007342 38663984 False 2 50;50;0 1.4865 True Other ENSG00000170178 ENSG00000170178 HGNC:5135 HSCB gene HSCB Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Anaemia, sideroblastic, 5, MIM# 619523 32634119 False 2 0;100;0 1.4865 True ENSG00000100209 ENSG00000100209 HGNC:28913 HSD11B1 gene HSD11B1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortisone reductase deficiency 2, MIM# 614662 21325058 False 2 0;100;0 1.4865 True ENSG00000117594 ENSG00000117594 HGNC:5208 HSPA1L gene HSPA1L Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory bowel disease, MONDO:0005265 28126021 False 2 50;50;0 1.4865 True ENSG00000204390 ENSG00000204390 HGNC:5234 HYAL1 gene HYAL1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IX, MIM# 601492;MONDO:0011093 10339581;18344557;21559944 False 2 0;100;0 1.4865 True ENSG00000114378 ENSG00000114378 HGNC:5320 ICE1 gene ICE1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability (MONDO:0001071), ICE1-related PMID: 31130284 False 2 0;100;0 1.4865 True ENSG00000164151 ENSG00000164151 HGNC:29154 ICOSLG gene ICOSLG Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 119, MIM# 620825;Combined immunodeficiency;recurrent bacterial and viral infections;neutropaenia 31532372;30498080 False 2 0;100;0 1.4865 True ENSG00000160223 ENSG00000160223 HGNC:17087 IFNG gene IFNG Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mendelian susceptibility to mycobacterial disease;Immunodeficiency 69, MIM#618963 32163377;38363432 False 2 0;50;50 1.4865 True ENSG00000111537 ENSG00000111537 HGNC:5438 IFT57 gene IFT57 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XVIII, MIM# 617927;Bardet-Bield syndrome;ciliopathy - MONDO:0005308 27060890 False 2 0;50;50 1.4865 True ENSG00000114446 ENSG00000114446 HGNC:17367 IGFBP7 gene IGFBP7 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224 34519236;31730227;32429784 False 2 0;67;33 1.4865 True ENSG00000163453 ENSG00000163453 HGNC:5476 IGKC gene IGKC Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576 https://search.clinicalgenome.org/CCID:005121 False 2 0;100;0 1.4865 True ENSG00000211592 ENSG00000211592 HGNC:5716 IGSF10 gene IGSF10 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Disorder of sex differentiation, MONDO:0002145, IGSF10-related 27137492;31042289;40700020;40700020;31200363;33208564 False 2 0;100;0 1.4865 True ENSG00000152580 ENSG00000152580 HGNC:26384 IKBKE gene IKBKE Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related 37937644 False 2 0;100;0 1.4865 True - - HGNC:14552 IL18BP gene IL18BP Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "{?Hepatitis, fulminant viral, susceptibility to} 618549" 31213488 False 2 0;100;0 1.4865 True ENSG00000137496 ENSG00000137496 HGNC:5987 IL27RA gene IL27RA Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405 38509369 False 2 0;100;0 1.4865 True ENSG00000104998 ENSG00000104998 HGNC:17290 IMPA1 gene IMPA1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal intellectual disability, autosomal recessive 59 MONDO:0015020 26416544;24554717;32839513;17460611 False 2 0;100;0 1.4865 True ENSG00000133731 ENSG00000133731 HGNC:6050 INCENP gene INCENP Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest MONDO:0014769, INCENP-related 41005306 False 2 0;100;0 1.4865 True ENSG00000149503 ENSG00000149503 HGNC:6058 INO80 gene INO80 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Primary immunodeficiency, MONDO:0003778 25312759 False 2 0;100;0 1.4865 True ENSG00000128908 ENSG00000128908 HGNC:26956 IQSEC3 gene IQSEC3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability MONDO:0001071, IQSEC3-related PMID: 31130284 False 2 0;100;0 1.4865 True ENSG00000120645 ENSG00000120645 HGNC:29193 IQUB gene IQUB Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, IQUB-related 39849482;36355624 False 2 0;100;0 1.4865 True ENSG00000164675 ENSG00000164675 HGNC:21995 IRF3 gene IRF3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532 32972995;38665565;33386334;41065760;26216125;26513235 False 2 0;100;0 1.4865 True ENSG00000126456 ENSG00000126456 HGNC:6118 IRF9 gene IRF9 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 65, susceptibility to viral infections 618648" 30826365;30143481 False 2 0;100;0 1.4865 True ENSG00000213928 ENSG00000213928 HGNC:6131 IRX6 gene IRX6 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cone dystrophy, MONDO:0000455 33891002 False 2 50;50;0 1.4865 True Other ENSG00000159387 ENSG00000159387 HGNC:14675 ISLR2 gene ISLR2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies MONDO:0019042, ISLR2-related 30483960 False 2 0;100;0 1.4865 True ENSG00000167178 ENSG00000167178 HGNC:29286 JAK2 gene JAK2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocythaemia 3, MIM# 614521 22397670;35129130 False 2 0;100;0 1.4865 True ENSG00000096968 ENSG00000096968 HGNC:6192 JAKMIP1 gene JAKMIP1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related 29158550;26627310;27799067 False 2 0;100;0 1.4865 True ENSG00000152969 ENSG00000152969 HGNC:26460 JPH3 gene JPH3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, JPH3-related;Intellectual disability;dystonia 33824468;36273396 False 2 0;50;50 1.4865 True ENSG00000154118 ENSG00000154118 HGNC:14203 KANK4 gene KANK4 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome MONDO:0005377, KANK4-related 25961457 False 2 0;0;100 1.4865 True ENSG00000132854 ENSG00000132854 HGNC:27263 KATNAL2 gene KATNAL2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Male infertility MONDO:0005372, KATNAL2-related;Complex neurodevelopmental disorder MONDO:0100038, KATNAL2-related 34096614;22495311;21572417;22495309;22495306 False 2 0;100;0 1.4865 True ENSG00000167216 ENSG00000167216 HGNC:25387 KCNA5 gene KCNA5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 7, MIM# 612240 16772329;19343045;23264583 False 2 0;100;0 1.4865 True ENSG00000130037 ENSG00000130037 HGNC:6224 KCNJ3 gene KCNJ3 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy (MONDO#0005027), KCNJ3-related PMID: 37963718 False 2 0;100;0 1.4865 True ENSG00000162989 ENSG00000162989 HGNC:6264 KCNQ1OT1 gene KCNQ1OT1 Expert Review;Expert Review Amber 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 2 0;100;0 1.4865 True ENSG00000269821 ENSG00000269821 HGNC:6295 KCTD15 gene KCTD15 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted frontonasal dysplasia, MONDO:0016643 38296633 False 2 0;100;0 1.4865 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000153885 ENSG00000153885 HGNC:23297 KHK gene KHK Expert Review Amber;Literature;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Fructosuria MIM#229800;Disorders of fructose metabolism 7833921;27604308;29870677 False 2 0;100;0 1.4865 True ENSG00000138030 ENSG00000138030 HGNC:6315 KIAA1217 gene KIAA1217 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Skeletal system disorder MONDO:0005172, KIAA1217-related 32369272 False 2 0;100;0 1.4865 True ENSG00000120549 ENSG00000120549 HGNC:25428 KIF23 gene KIF23 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anaemia, congenital dyserythropoietic, type IIIA 105600 23570799;33159567 False 2 0;100;0 1.4865 True ENSG00000137807 ENSG00000137807 HGNC:6392 KIF3B gene KIF3B Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hepatic fibrosis;retinitis pigmentosa;postaxial polydactyly;Retinitis pigmentosa 89, MIM#618955 32386558 False 2 0;100;0 1.4865 True ENSG00000101350 ENSG00000101350 HGNC:6320 KIRREL1 gene KIRREL1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Nephrotic syndrome, type 23, MIM# 619201" 31472902 False 2 0;100;0 1.4865 True ENSG00000183853 ENSG00000183853 HGNC:15734 KISS1 gene KISS1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842 22335740;25783047;22766261;17563351 False 2 0;100;0 1.4865 True ENSG00000170498 ENSG00000170498 HGNC:6341 KL gene KL Expert Review Amber;Victorian Clinical Genetics Services Mendeliome Unknown Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994;Hyperphosphatemia 17710231;31013726;9363890 False 2 0;100;0 1.4865 True ENSG00000133116 ENSG00000133116 HGNC:6344 KLF13 gene KLF13 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease MONDO:0005453 - KLF13-related;Dilated cardiomyopathy - MONDO:0005021, KLF13-related 33215447;35369534;32293321;36346048;41201692 False 2 0;100;0 1.4865 True ENSG00000169926 ENSG00000169926 HGNC:13672 KLHL10 gene KLHL10 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spermatogenic failure 11, MIM# 615081 17047026;15136734;31479588 False 2 0;100;0 1.4865 True ENSG00000161594 ENSG00000161594 HGNC:18829 KLHL9 gene KLHL9 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 20554658;40818927 False 2 0;100;0 1.4865 True ENSG00000198642 ENSG00000198642 HGNC:18732 KPNA7 gene KPNA7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 17, MIM# 620319;Neurodevelopmental disorder (MONDO#0700092), KPNA7-related 24045845;32179771;36647821 False 2 0;50;50 1.4865 True ENSG00000185467 ENSG00000185467 HGNC:21839 KRT71 gene KRT71 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypotrichosis 13, 615896 14632181;22592156;19713490 False 2 0;100;0 1.4865 True ENSG00000139648 ENSG00000139648 HGNC:28927 KRT74 gene KRT74 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ectodermal dysplasia 7, hair/nail type MIM#614929;Hypotrichosis 3 , MIM# 613981;Woolly hair, autosomal dominant, MIM# 194300 24714551;21188418;20346438;21188418 False 2 0;100;0 1.4865 True ENSG00000170484 ENSG00000170484 HGNC:28929 KRT83 gene KRT83 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 5, MIM# 617756;Monilethrix , MIM#621170 27965375;15744029;25557232 False 2 0;100;0 1.4865 True ENSG00000170523 ENSG00000170523 HGNC:6460 LAMTOR2 gene LAMTOR2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798 17195838;24092934 False 2 0;100;0 1.4865 True ENSG00000116586 ENSG00000116586 HGNC:29796 LBX1 gene LBX1 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Central hypoventilation syndrome, congenital, 3, MIM#619483 30487221 False 2 0;100;0 1.4865 True ENSG00000138136 ENSG00000138136 HGNC:16960 LGR4 gene LGR4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal {Bone mineral density, low, susceptibility to} MIM#615311;Delayed puberty, self-limited MIM#619613;Syndromic disease, LGR4-related (MONDO#0002254) 32493844;36538378 False 2 0;100;0 1.4865 True ENSG00000205213 ENSG00000205213 HGNC:13299 LINGO1 gene LINGO1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 64, MIM# 618103 31668702 False 2 0;100;0 1.4865 True ENSG00000169783 ENSG00000169783 HGNC:21205 LMOD1 gene LMOD1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362 28292896 False 2 0;100;0 1.4865 True ENSG00000163431 ENSG00000163431 HGNC:6647 LRIF1 gene LRIF1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy 32467133 False 2 0;100;0 1.4865 True ENSG00000121931 ENSG00000121931 HGNC:30299 LRP1 gene LRP1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental dysplasia of the hip 3, MIM# 620690;Keratosis pilaris atrophicans MIM#604093 26142438;33776059;36067312 False 2 0;100;0 1.4865 True ENSG00000123384 ENSG00000123384 HGNC:6692 LRRC32 gene LRRC32 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 30976112;41041957 False 2 0;100;0 1.4865 True ENSG00000137507 ENSG00000137507 HGNC:4161 LRRC45 gene LRRC45 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, LRRC45-related 39638757 False 2 0;100;0 1.4865 True ENSG00000169683 ENSG00000169683 HGNC:28302 LRRC8C gene LRRC8C Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TIMES syndrome MIM#621056 39623139 False 2 0;100;0 1.4865 True Other ENSG00000171488 ENSG00000171488 HGNC:25075 LSM7 gene LSM7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Leukodystrophy and cerebellar atrophy, MIM# 621191 DOI:https://doi.org/10.1016/j.xhgg.2021.100034 False 2 0;100;0 1.4865 True ENSG00000130332 ENSG00000130332 HGNC:20470 LTV1 gene LTV1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199 34999892 False 2 0;100;0 1.4865 True ENSG00000135521 ENSG00000135521 HGNC:21173 LYRM4 gene LYRM4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, MIM# 615595 23814038;31497476 False 2 0;100;0 1.4865 True ENSG00000214113 ENSG00000214113 HGNC:21365 MAEL gene MAEL Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, MAEL-related 40442410;39122675 False 2 0;100;0 1.4865 True ENSG00000143194 ENSG00000143194 HGNC:25929 MAJIN gene MAJIN Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Recurrent hydatidiform mole, non-obstructive azoospermia 39545410;33211200 False 2 0;100;0 1.4865 True ENSG00000168070 ENSG00000168070 HGNC:27441 MAL gene MAL Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 28, MIM# 620978 35217805 False 2 0;100;0 1.4865 True ENSG00000172005 ENSG00000172005 HGNC:6817 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related 37503746 False 2 0;100;0 1.4865 True ENSG00000165072 ENSG00000165072 HGNC:23673 MAN2A2 gene MAN2A2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated 36357165;40628855 False 2 0;100;0 1.4865 True ENSG00000196547 ENSG00000196547 HGNC:6825 MANF gene MANF Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651" 26077850;33500254;34815294 False 2 0;100;0 1.4865 True ENSG00000145050 ENSG00000145050 HGNC:15461 MAPK8 gene MAPK8 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chronic mucocutaneous candidiasis;Connective tissue disorders 31784499 False 2 0;100;0 1.4865 True ENSG00000107643 ENSG00000107643 HGNC:6881 MASTL gene MASTL Expert Review Amber;Victorian Clinical Genetics Services Mendeliome Unknown False 2 0;100;0 1.4865 True ENSG00000120539 ENSG00000120539 HGNC:19042 MAT2A gene MAT2A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thoracic aortic aneurysm 30071989;25557781 False 2 0;100;0 1.4865 True ENSG00000168906 ENSG00000168906 HGNC:6904 MC1R gene MC1R Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200 12876664 False 2 0;100;0 1.4865 True ENSG00000258839 ENSG00000258839 HGNC:6929 MCAT gene MCAT Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Optic atrophy 15, MIM# 620583 31915829;33918393 False 2 0;67;33 1.4865 True ENSG00000100294 ENSG00000100294 HGNC:29622 MCM10 gene MCM10 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313;Susceptibility to CMV;Restrictive cardiomyopathy 32865517;33712616 False 2 0;100;0 1.4865 True ENSG00000065328 ENSG00000065328 HGNC:18043 MCM4 gene MCM4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 54 MIM# 609981;Decreased NK cell number and function;Viral infections (EBV, HSV, VZV);Short stature;B cell lymphoma;Adrenal failure;Failure to thrive;Microcephaly;Increased chromosomal breakage;Hyperpigmentation;Lymphadenopathy 22354167;22354170;22499342 False 2 0;100;0 1.4865 True ENSG00000104738 ENSG00000104738 HGNC:6947 MCM7 gene MCM7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, MCM7-related;Meier-Gorlin syndrome;Microcephaly;Intellectual disability;Lipodystrophy;Adrenal insufficiency 33654309;34059554 False 2 0;100;0 1.4865 True ENSG00000166508 ENSG00000166508 HGNC:6950 MDC1 gene MDC1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Oligoasthenoteratozoospermia, MONDO:0850098, MDC1-related PMID: 40954969;34089056 False 2 0;100;0 1.4865 True ENSG00000137337 ENSG00000137337 HGNC:21163 MDH1 gene MDH1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal epilepsy;microcephaly;intellectual disability;Epileptic encephalopathy, early infantile, 88, MIM#618959Epileptic encephalopathy, early infantile, 88, MIM#618959 31538237;40959467 False 2 0;100;0 1.4865 True ENSG00000014641 ENSG00000014641 HGNC:6970 MED22 gene MED22 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 False 2 0;100;0 1.4865 True ENSG00000148297 ENSG00000148297 HGNC:11477 MED29 gene MED29 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, MONDO:0020135, MED29-related PMID: 40745490 False 2 0;100;0 1.4865 True ENSG00000063322 ENSG00000063322 HGNC:23074 MEPE gene MEPE Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related;hereditary congenital facial paresis;otosclerosis 30287925 False 2 0;100;0 1.4865 True ENSG00000152595 ENSG00000152595 HGNC:13361 MESP1 gene MESP1 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease MONDO:0005453 28677747;28050627;27185833;26694203 False 2 0;100;0 1.4865 True ENSG00000166823 ENSG00000166823 HGNC:29658 MFAP5 gene MFAP5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic MIM# 616166;MONDO:0014514 25434006;30763214;33807627;33514025;29524629 False 2 0;100;0 1.4865 True ENSG00000197614 ENSG00000197614 HGNC:29673 MGA gene MGA Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Syndromic disease, MONDO:0002254, MGA-related;Premature ovarian failure 26, MIM# 621065" 39600096;20044811;39545409 False 2 0;100;0 1.4865 True ENSG00000174197 ENSG00000174197 HGNC:14010 MICAL1 gene MICAL1 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant epilepsy with auditory features (ADEAF) 38705457;29394500;21638339 False 2 0;100;0 1.4865 True ENSG00000135596 ENSG00000135596 HGNC:20619 MIR140 gene MIR140 Expert Review;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618" 30804514;31633310 False 2 0;100;0 1.4865 True ENSG00000208017 ENSG00000208017 HGNC:31527 MIR17HG gene MIR17HG Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome 2;OMIM #614326 25391829;21892160 False 2 0;100;0 1.4865 True ENSG00000215417 ENSG00000215417 HGNC:23564 MIR96 gene MIR96 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 50, MIM# 613074 19363479;29325119 False 2 0;100;0 1.4865 True ENSG00000199158 ENSG00000199158 HGNC:31648 MKL2 gene MKL2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), MKL2-related PMID: 37013900 False 2 0;100;0 1.4865 True Other ENSG00000186260 ENSG00000186260 HGNC:29819 MMD2 gene MMD2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodontitis, MONDO:0005076, MMD2-related 40663042 False 2 0;100;0 1.4865 True ENSG00000136297 ENSG00000136297 HGNC:30133 MMGT1 gene MMGT1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, MMGT1-related 33057194 False 2 0;100;0 1.4865 True ENSG00000169446 ENSG00000169446 HGNC:28100 MMP14 gene MMP14 Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Winchester syndrome 277950 29741626;22922033;10520996 False 2 0;100;0 1.4865 False ENSG00000157227 ENSG00000157227 HGNC:7160 MMP15 gene MMP15 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Cholestasis;Congenital heart disease 33875846;36349822 False 2 0;100;0 1.4865 True ENSG00000102996 ENSG00000102996 HGNC:7161 MOCS3 gene MOCS3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency, type B2, MIM# 621373 33897766;28544736 False 2 0;100;0 1.4865 True ENSG00000124217 ENSG00000124217 HGNC:15765 MON1A gene MON1A Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital diarrhea MONDO:0000824 40174224 False 2 0;100;0 1.4865 True ENSG00000164077 ENSG00000164077 HGNC:28207 MPC2 gene MPC2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related 36417180 False 2 0;100;0 1.4865 True ENSG00000143158 ENSG00000143158 HGNC:24515 MPO gene MPO Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Myeloperoxidase deficiency, MIM# 254600 False 2 0;100;0 1.4865 True ENSG00000005381 ENSG00000005381 HGNC:7218 MRPL50 gene MRPL50 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO: 004470, MRPL50-related PMID: 37148394 False 2 0;100;0 1.4865 True ENSG00000136897 ENSG00000136897 HGNC:16654 MRPS14 gene MRPS14 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 38, MIM# 618378;perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability" 30358850 False 2 0;100;0 1.4865 True ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Australian Genomcis Health Alliance Leukodystrophy Flagship;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2;OMIM #610498 28749478;15505824 False 2 0;0;100 1.4865 True ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS36 gene MRPS36 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related PMID: 41018056;38685873 False 2 0;100;0 1.4865 True ENSG00000134056 ENSG00000134056 HGNC:16631 MRPS7 gene MRPS7 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 34, MIM# 617872 25556185;36421788 False 2 0;100;0 1.4865 True ENSG00000125445 ENSG00000125445 HGNC:14499 MS4A1 gene MS4A1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 5, MIM# 613495 20038800;23966626;32048120 False 2 0;50;50 1.4865 True ENSG00000156738 ENSG00000156738 HGNC:7315 MTAP gene MTAP Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250 22464254 False 2 0;100;0 1.4865 True ENSG00000099810 ENSG00000099810 HGNC:7413 MT-ATP8 gene MT-ATP8 Expert list;Expert Review Amber Mendeliome MITOCHONDRIAL Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP8-related 40112238 False 2 0;100;0 1.4865 True ENSG00000228253 ENSG00000228253 HGNC:7415 MTERF3 gene MTERF3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), MTERF3-related 40543543 False 2 0;100;0 1.4865 True ENSG00000156469 ENSG00000156469 HGNC:24258 MTMR14 gene MTMR14 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 20400459;20817957;19465920;17008356 False 2 0;50;50 1.4865 True ENSG00000163719 ENSG00000163719 HGNC:26190 MT-ND4L gene MT-ND4L Expert list;Expert Review Amber Mendeliome MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-ND4L-related 8680405;11935318;17003408;22879922;24568867 False 2 0;100;0 1.4865 True ENSG00000212907 ENSG00000212907 HGNC:7460 MT-TC gene MT-TC Expert list;Expert Review Amber Mendeliome MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TC-related 8829635;9185178;17241783;11453453;16955414;32169613;36039763;17724295;35252560;34433719;30030363 False 2 0;100;0 1.4865 True ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TQ gene MT-TQ Expert list;Expert Review Amber Mendeliome MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TQ-related 11171912;10996779;17003408;11335700;38730005;32588991;38730005 False 2 0;100;0 1.4865 True ENSG00000210107 ENSG00000210107 HGNC:7495 MYL4 gene MYL4 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal atrial fibrillation, familial, 18 MONDO:0015001 27742809;27066836;29080865 False 2 0;100;0 1.4865 False ENSG00000198336 ENSG00000198336 HGNC:7585 MYLK3 gene MYLK3 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dilated cardiomyopathy 29235529;31244672;32213617;32870709 False 2 0;100;0 1.4865 True ENSG00000140795 ENSG00000140795 HGNC:29826 MYLPF gene MYLPF Expert Review;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Distal arthrogryposis type 1C (DA1C), MIM#619110 32707087 False 2 50;50;0 1.4865 True ENSG00000180209 ENSG00000180209 HGNC:29824 MYO9A gene MYO9A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome 24, presynaptic, MIM# 618198 26752647;27259756 False 2 0;100;0 1.4865 True ENSG00000066933 ENSG00000066933 HGNC:7608 MYO9B gene MYO9B Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related 16720215;16423886;16282976;40382695;36260368 False 2 0;67;33 1.4865 True ENSG00000099331 ENSG00000099331 HGNC:7609 MYOF gene MYOF Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-7 (HAE7), MIM#619366 32542751;40797221 False 2 0;100;0 1.4865 True ENSG00000138119 ENSG00000138119 HGNC:3656 MYOM1 gene MYOM1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021, MYOM1-related;Hypertrophic cardiomyopathy, MONDO:0005045 27600940;26656175;21256114 False 2 0;33;67 1.4865 True ENSG00000101605 ENSG00000101605 HGNC:7613 NAA16 gene NAA16 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart disease, MONDO:0005453, NAA16-related 41148812;23665959;28991257 False 2 0;100;0 1.4865 True ENSG00000172766 ENSG00000172766 HGNC:26164 NANOS1 gene NANOS1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted spermatogenic failure MONDO:0004983 23315541 False 2 0;100;0 1.4865 False ENSG00000188613 ENSG00000188613 HGNC:23044 NANOS3 gene NANOS3 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Primary ovarian insufficiency 25054146;24091668 False 2 0;100;0 1.4865 True ENSG00000187556 ENSG00000187556 HGNC:22048 NAV2 gene NAV2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, NAV2-related PMID:35218524 False 2 0;100;0 1.4865 True ENSG00000166833 ENSG00000166833 HGNC:15997 NCAPD3 gene NCAPD3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Microcephaly 22, primary, autosomal recessive, MIM# 617984 27737959 False 2 0;100;0 1.4865 True ENSG00000151503 ENSG00000151503 HGNC:28952 NCAPG2 gene NCAPG2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Khan-Khan-Katsanis syndrome, MIM# 618460" 30609410 False 2 0;100;0 1.4865 True ENSG00000146918 ENSG00000146918 HGNC:21904 NDNF gene NDNF Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 31883645;40788466;36454653 False 2 0;100;0 1.4865 True ENSG00000173376 ENSG00000173376 HGNC:26256 NDUFA11 gene NDUFA11 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 18306244;31074871 False 2 0;100;0 1.4865 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA8 gene NDUFA8 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272;Developmental delay;microcehaly;seizures 32385911;33153867 False 2 0;100;0 1.4865 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFB9 gene NDUFB9 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 22200994;38129218 False 2 0;100;0 1.4865 True ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFC2 gene NDUFC2 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170 32969598 False 2 0;100;0 1.4865 True ENSG00000151366 ENSG00000151366 HGNC:7706 NEBL gene NEBL Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy;dilated cardiomyopathy 27186169 False 2 100;0;0 1.4865 True ENSG00000078114 ENSG00000078114 HGNC:16932 NECAP1 gene NECAP1 Expert Review Amber;Literature;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 21, MIM#615833 24399846;30626896;30525121 False 2 0;100;0 1.4865 True ENSG00000089818 ENSG00000089818 HGNC:24539 NEK2 gene NEK2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 67, MIM#615565 24043777 False 2 0;100;0 1.4865 True ENSG00000117650 ENSG00000117650 HGNC:7745 NFAT5 gene NFAT5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune deficiency disease, MONDO:0003778, NFAT5-related;Recurrent infections;Autoimmune enterocolopathy;EBV susceptibility;HLH 25667416;36238298 False 2 0;100;0 1.4865 True ENSG00000102908 ENSG00000102908 HGNC:7774 NFATC1 gene NFATC1 ClinGen;Expert Review Amber;Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, NFATC1-related;Combined Immune deficiency 37249233 False 2 0;50;50 1.4865 True ENSG00000131196 ENSG00000131196 HGNC:7775 NFATC2 gene NFATC2 ClinGen;Expert Review Amber;Expert Review Red;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Skeletal system disorder MONDO:0005172;Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related 35789258;38427060 False 2 0;25;75 1.4865 True ENSG00000101096 ENSG00000101096 HGNC:7776 NFXL1 gene NFXL1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Syndromic disease (MONDO:0002254), NFXL1-related 40430072;41024252 False 2 0;100;0 1.4865 True ENSG00000170448 ENSG00000170448 HGNC:18726 NKAPL gene NKAPL Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spermatogenic failure, MONDO:0004983, NKAPL-related 39824811 False 2 0;100;0 1.4865 True ENSG00000189134 ENSG00000189134 HGNC:21584 NLRP14 gene NLRP14 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Inherited oocyte maturation defect, MONDO:0014769, NLRP14-related and early embryo arrest 38060382 False 2 0;100;0 1.4865 True ENSG00000158077 ENSG00000158077 HGNC:22939 NMNAT2 gene NMNAT2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal polyneuropathy;erythromelalgia;Hydrops fetalis and multiple fetal anomalies 31132363;25271157;20126265 False 2 0;100;0 1.4865 True ENSG00000157064 ENSG00000157064 HGNC:16789 NODAL gene NODAL Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 5 (MIM#270100) 9354794;19064609;29368431;19933292;11311163;30293987 False 2 0;50;50 1.4865 True ENSG00000156574 ENSG00000156574 HGNC:7865 NOP10 gene NOP10 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, MIM#224230;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400 17507419;32554502;32139460 False 2 0;100;0 1.4865 True ENSG00000182117 ENSG00000182117 HGNC:14378 NOS3 gene NOS3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal "Moyamoya disease 8, MIM# 621469" 24986538;28084234;33652340;36941667;37383439 False 2 0;50;50 1.4865 True ENSG00000164867 ENSG00000164867 HGNC:7876 NPPA gene NPPA Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Atrial fibrillation, familial, 6, (MIM#612201) 18614783;20064500;31034774;31077706;40838933;23275345 False 2 0;100;0 1.4865 True ENSG00000175206 ENSG00000175206 HGNC:7939 NRG1 gene NRG1 Expert list;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hirschsprung disease, susceptibility (MONDO:0100179), NRG1-related;Peripheral neuropathy MONDO:0005244 22574178;21706185;28190554;33421311;31240788;35485770 False 2 0;67;33 1.4865 True ENSG00000157168 ENSG00000157168 HGNC:7997 NRIP1 gene NRIP1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital anomalies of kidney and urinary tract 3 MONDO:0032646 28381549;34525250 False 2 0;100;0 1.4865 True ENSG00000180530 ENSG00000180530 HGNC:8001 NSMCE2 gene NSMCE2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 10, MONDO:0014991 25105364 False 2 0;100;0 1.4865 True ENSG00000156831 ENSG00000156831 HGNC:26513 NUAK2 gene NUAK2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Anencephaly 2, MIM# 619452 32845958 False 2 0;100;0 1.4865 True ENSG00000163545 ENSG00000163545 HGNC:29558 NUBP2 gene NUBP2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 39867373 False 2 0;100;0 1.4865 True ENSG00000095906 ENSG00000095906 HGNC:8042 NUDCD2 gene NUDCD2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies (MONDO:0019042), NUDCD2-related 37272762 False 2 0;100;0 1.4865 True ENSG00000170584 ENSG00000170584 HGNC:30535 NUP54 gene NUP54 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Dystonia 37, early-onset, with striatal lesions, MIM# 620427;Early onset dystonia;progressive neurological deterioration;ataxia;dysarthria;dysphagia;hypotonia" PMID: 36333996 False 2 0;100;0 1.4865 True ENSG00000138750 ENSG00000138750 HGNC:17359 NUP62 gene NUP62 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile - MIM#271930 16786527 False 2 0;100;0 1.4865 True ENSG00000213024 ENSG00000213024 HGNC:8066 NXT2 gene NXT2 Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Spermatogenic failure, MONDO:0004983, NXT2-related PMID: 40624043;35013161 False 2 0;100;0 1.4865 True ENSG00000101888 ENSG00000101888 HGNC:18151 NYNRIN gene NYNRIN Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Wilms tumour predisposition PMID: 30885698 False 2 0;100;0 1.4865 True ENSG00000205978 ENSG00000205978 HGNC:20165 OOEP gene OOEP Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Multi locus imprinting disturbance in offspring;female infertility due to oocyte meiotic arrest MONDO:0044626 29574422;35946397;18804437 False 2 0;50;50 1.4865 True ENSG00000203907 ENSG00000203907 HGNC:21382 OPLAH gene OPLAH Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal 5-oxoprolinase deficiency MIM#260005;Disorders of the gamma-glutamyl cycle 27604308;27477828 False 2 50;50;0 1.4865 True ENSG00000178814 ENSG00000178814 HGNC:8149 OTP gene OTP Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Obesity disorder, MONDO:0011122, OTP-related 39813316;29107289 False 2 0;100;0 1.4865 True ENSG00000171540 ENSG00000171540 HGNC:8518 OXGR1 gene OXGR1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374 36571463 False 2 0;100;0 1.4865 True ENSG00000165621 ENSG00000165621 HGNC:4531 P2RY8 gene P2RY8 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Systemic lupus erythematosus, MONDO:0007915, P2RY8-related 34889940 False 2 0;100;0 1.4865 True ENSG00000182162 ENSG00000182162 HGNC:15524 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 27, MIM# 621343 38637313 False 2 0;100;0 1.4865 True ENSG00000165912 ENSG00000165912 HGNC:8572 PANK4 gene PANK4 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 49, MIM# 619593;Congenital posterior cataract 30585370 False 2 0;100;0 1.4865 True ENSG00000157881 ENSG00000157881 HGNC:19366 PCK2 gene PCK2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal PEPCK deficiency, mitochondrial - MIM#261650;peripheral neuropathy (MONDO#0005244), PCK2-related False 2 0;33;67 1.4865 True ENSG00000100889 ENSG00000100889 HGNC:8725 PCNA gene PCNA ClinGen;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal hereditary ataxia MONDO:0100309 24911150, 33426167, 36990216 False 2 0;100;0 1.4865 True ENSG00000132646 ENSG00000132646 HGNC:8729 PDCD2 gene PDCD2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Non-immune hydrops fetalis, MONDO:0009369, PDCD2-related 40208938 False 2 0;100;0 1.4865 True ENSG00000071994 ENSG00000071994 HGNC:8762 PDCL3 gene PDCL3 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon 32621347 False 2 0;100;0 1.4865 True ENSG00000115539 ENSG00000115539 HGNC:28860 PDE6G gene PDE6G Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 57 - MIM#613582 20655036 False 2 0;100;0 1.4865 True ENSG00000185527 ENSG00000185527 HGNC:8789 PDS5A gene PDS5A Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex neurodevelopmental disorder, MONDO:0100038 10.64898/2026.02.23.26346364;30158690 False 2 100;0;0 1.4865 True ENSG00000121892 ENSG00000121892 HGNC:29088 PDS5B gene PDS5B Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092 10.64898/2026.02.23.26346364 False 2 100;0;0 1.4865 True ENSG00000083642 ENSG00000083642 HGNC:20418 PFAS gene PFAS Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Inborn error of metabolism, MONDO:0019052, PFAS-related 40421664 False 2 0;100;0 1.4865 True ENSG00000178921 ENSG00000178921 HGNC:8863 PGRMC1 gene PGRMC1 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure;Isolated paediatric cataract 25246111;18782852;33867527;23783460 False 2 0;50;50 1.4865 True ENSG00000101856 ENSG00000101856 HGNC:16090 PHACTR4 gene PHACTR4 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic disease, MONDO:0002254, PHACTR4-related 40012205 False 2 0;50;50 1.4865 True ENSG00000204138 ENSG00000204138 HGNC:25793 PHC1 gene PHC1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Microcephaly 11, primary, autosomal recessive, MIM#615414 23418308 False 2 0;100;0 1.4865 True ENSG00000111752 ENSG00000111752 HGNC:3182 PHLDB1 gene PHLDB1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XXIII, MIM# 620639 36543534 False 2 0;100;0 1.4865 True ENSG00000019144 ENSG00000019144 HGNC:23697 PIGU gene PIGU Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 21;OMIM #618590 31353022 False 2 50;50;0 1.4865 True ENSG00000101464 ENSG00000101464 HGNC:15791 PIGY gene PIGY Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809 26293662 False 2 0;100;0 1.4865 True ENSG00000255072 ENSG00000255072 HGNC:28213 PIK3C2B gene PIK3C2B Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial partial epilepsy - MONDO#0017704 PMID:35786744 False 2 0;100;0 1.4865 True ENSG00000133056 ENSG00000133056 HGNC:8972 PIWIL1 gene PIWIL1 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, PIWIL1-related 41706354;39122675;37335463;36379263;33877510;28552346 False 2 0;100;0 1.4865 True ENSG00000125207 ENSG00000125207 HGNC:9007 PJA1 gene PJA1 Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148 32530565 False 2 0;100;0 1.4865 True ENSG00000181191 ENSG00000181191 HGNC:16648 PLCH1 gene PLCH1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Holoprosencephaly 14, MIM# 619895 33820834 False 2 0;100;0 1.4865 True ENSG00000114805 ENSG00000114805 HGNC:29185 PLD3 gene PLD3 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 46 MIM#617770 29053796;30312375;30312384 False 2 0;100;0 1.4865 True ENSG00000105223 ENSG00000105223 HGNC:17158 PLEKHA5 gene PLEKHA5 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cleft lip;cleft palate 29805042 False 2 50;50;0 1.4865 True ENSG00000052126 ENSG00000052126 HGNC:30036 PLEKHA7 gene PLEKHA7 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft lip/palate MONDO:0016044, PLEKHA7-related 29805042 False 2 0;100;0 1.4865 True ENSG00000166689 ENSG00000166689 HGNC:27049 PLEKHG2 gene PLEKHG2 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763" 26573021;40594583 False 2 0;100;0 1.4865 True ENSG00000090924 ENSG00000090924 HGNC:29515 PLEKHM2 gene PLEKHM2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021, PLEKHM2-related 35862026;26464484;38942823;38490981;37349842;40054934 False 2 0;100;0 1.4865 True ENSG00000116786 ENSG00000116786 HGNC:29131 PLXNA2 gene PLXNA2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder, PLXNA2-related, MONDO:0100038 34327814 False 2 0;100;0 1.4865 True ENSG00000076356 ENSG00000076356 HGNC:9100 PLXNB1 gene PLXNB1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism MONDO:0018555 35170806 False 2 0;100;0 1.4865 True ENSG00000164050 ENSG00000164050 HGNC:9103 POF1B gene POF1B Expert Review Amber;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Premature ovarian failure 2B, MIM# 300604 16773570;25676666 False 2 0;100;0 1.4865 True ENSG00000124429 ENSG00000124429 HGNC:13711 POLD2 gene POLD2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145 31449058;36528861 False 2 0;50;50 1.4865 True ENSG00000106628 ENSG00000106628 HGNC:9176 POLD3 gene POLD3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 122, MIM# 620869 37030525;36395985;27524497;38099988 False 2 33;67;0 1.4865 True ENSG00000077514 ENSG00000077514 HGNC:20932 POLR2C gene POLR2C Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency MONDO:0005387, POLR2C-related 34794894;29367954 False 2 0;100;0 1.4865 True ENSG00000102978 ENSG00000102978 HGNC:9189 POLR3C gene POLR3C Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe VZV infection 28783042 False 2 0;100;0 1.4865 True ENSG00000186141 ENSG00000186141 HGNC:30076 POLR3GL gene POLR3GL Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM), MIM#619234;endosteal hyperostosis;oligodontia;growth retardation;facial dysmorphisms;lipodystrophy 31089205;31695177 False 2 0;100;0 1.4865 True ENSG00000121851 ENSG00000121851 HGNC:28466 POLR3H gene POLR3H Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency MONDO:0005387, POLR3H-related 34794894;30830215 False 2 0;100;0 1.4865 True ENSG00000100413 ENSG00000100413 HGNC:30349 POU2AF1 gene POU2AF1 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia, MONDO:0015977, POU2AF1-related 33571536 False 2 0;50;50 1.4865 True ENSG00000110777 ENSG00000110777 HGNC:9211 POU6F2 gene POU6F2 Expert Review Amber;Literature;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism, MONDO:0018555 37600690 False 2 0;50;50 1.4865 True ENSG00000106536 ENSG00000106536 HGNC:21694 PPIP5K2 gene PPIP5K2 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 100, MIM# 618422" 29590114 False 2 0;100;0 1.4865 True ENSG00000145725 ENSG00000145725 HGNC:29035 PPM1K gene PPM1K Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, mild variant, MIM#615135 23086801;36706222 False 2 0;100;0 1.4865 True ENSG00000163644 ENSG00000163644 HGNC:25415 PPP1R3F gene PPP1R3F Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related 37531237 False 2 50;50;0 1.4865 True ENSG00000049769 ENSG00000049769 HGNC:14944 PPP2R2B gene PPP2R2B Expert list;Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related 25356899;39565297 False 2 0;100;0 1.4865 True ENSG00000156475 ENSG00000156475 HGNC:9305 PPP5C gene PPP5C Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, PPP5C-related 35361529;25363768;33057194;40172746 False 2 0;100;0 1.4865 True ENSG00000011485 ENSG00000011485 HGNC:9322 PRICKLE2 gene PRICKLE2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related 34092786;21276947;26942291;26942292 False 2 50;50;0 1.4865 True ENSG00000163637 ENSG00000163637 HGNC:20340 PRKAG3 gene PRKAG3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Skeletal muscle glycogen content and metabolism QTL MIM#619030 17878938;10818001 False 2 0;100;0 1.4865 True ENSG00000115592 ENSG00000115592 HGNC:9387 PRPH gene PRPH Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400;Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related 20363051;15322088;15446584;30992453;32638105 False 2 0;100;0 1.4865 True ENSG00000135406 ENSG00000135406 HGNC:9461 PRSS12 gene PRSS12 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability, PRSS12 related MIM#249500 12459588;22090715;23344636 False 2 0;50;50 1.4865 True ENSG00000164099 ENSG00000164099 HGNC:9477 PRSS8 gene PRSS8 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal ichthyosis MONDO:0019269, PRSS8-related 36715754 False 2 0;100;0 1.4865 True ENSG00000052344 ENSG00000052344 HGNC:9491 PSMA3 gene PSMA3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome Other Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040 26524591 False 2 0;100;0 1.4865 True ENSG00000100567 ENSG00000100567 HGNC:9532 PSMB1 gene PSMB1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, PSMB1-related 32129449 False 2 0;100;0 1.4865 True ENSG00000008018 ENSG00000008018 HGNC:9537 PSMB4 gene PSMB4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome Other Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591 26524591 False 2 0;100;0 1.4865 True ENSG00000159377 ENSG00000159377 HGNC:9541 PTBP2 gene PTBP2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), PTBP2-related 40965981 False 2 0;100;0 1.4865 True ENSG00000117569 ENSG00000117569 HGNC:17662 PTGS1 gene PTGS1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Platelet-type bleeding disorder 12 MONDO:0011588 32299908;11442478;27629384;8562397 False 2 0;100;0 1.4865 True ENSG00000095303 ENSG00000095303 HGNC:9604 PTPA gene PTPA Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability, MONDO: 36073231, PTPA-related;Parkinson disease MONDO:0005180, PTPA-related 36073231;37448355;37046398 False 2 0;100;0 1.4865 True ENSG00000119383 ENSG00000119383 HGNC:9308 PTPN13 gene PTPN13 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal bone marrow failure syndrome MONDO#0000159, PTPN13-related 35643866 False 2 0;100;0 1.4865 True ENSG00000163629 ENSG00000163629 HGNC:9646 PTPRJ gene PTPRJ Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia 10, MIM# 620484 30591527 False 2 0;100;0 1.4865 True ENSG00000149177 ENSG00000149177 HGNC:9673 QSER1 gene QSER1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, QSER1-related PMID: 41139957 False 2 0;100;0 1.4865 True ENSG00000060749 ENSG00000060749 HGNC:26154 RAB14 gene RAB14 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, RAB14-related 33057194 False 2 0;100;0 1.4865 True ENSG00000119396 ENSG00000119396 HGNC:16524 RAD51AP2 gene RAD51AP2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, RAD51AP2-related 41644825;36153927 False 2 0;100;0 1.4865 True ENSG00000214842 ENSG00000214842 HGNC:34417 RAMP2 gene RAMP2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Open angle glaucoma MONDO:0005338, RAMP2-related 31000793 False 2 0;100;0 1.4865 True ENSG00000131477 ENSG00000131477 HGNC:9844 RAP1A gene RAP1A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome MONDO:0016512, RAP1A-related 26280580 False 2 0;100;0 1.4865 True ENSG00000116473 ENSG00000116473 HGNC:9855 RARA gene RARA Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis - MONDO:0015469;Syndromic chorioretinal coloboma 31343737;37086723 False 2 0;100;0 1.4865 True ENSG00000131759 ENSG00000131759 HGNC:9864 RASA2 gene RASA2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome MONDO:0018997, RASA2-related 41854160;25049390;30311384 False 2 0;100;0 1.4865 True ENSG00000155903 ENSG00000155903 HGNC:9872 RBFOX3 gene RBFOX3 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related 35951651;36117209;24039908;40011789 False 2 0;100;0 1.4865 True ENSG00000167281 ENSG00000167281 HGNC:27097 RBM28 gene RBM28 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Alopecia, neurologic defects, and endocrinopathy syndrome (MIM#612079) 18439547;33941690;27077951 False 2 0;100;0 1.4865 True ENSG00000106344 ENSG00000106344 HGNC:21863 RBMX gene RBMX Expert Review;Expert Review Amber Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238;Gustavson syndrome, MIM# 309555;Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related 25256757;34260915;37277488;39263607 False 2 0;100;0 1.4865 True ENSG00000147274 ENSG00000147274 HGNC:9910 RC3H1 gene RC3H1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Haemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998" 31636267;15917799;40769319 False 2 0;100;0 1.4865 True ENSG00000135870 ENSG00000135870 HGNC:29434 RCAN1 gene RCAN1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal segmental glomerulosclerosis MONDO:0100313, RCAN1-related 33863784 False 2 0;100;0 1.4865 True ENSG00000159200 ENSG00000159200 HGNC:3040 REC8 gene REC8 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, REC8-related 34794894;15515002;34707299;35172124;31479588 False 2 0;100;0 1.4865 True ENSG00000100918 ENSG00000100918 HGNC:16879 RECQL gene RECQL Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal RECON progeroid syndrome MONDO:0957266 PMID: 35025765 False 2 0;100;0 1.4865 True ENSG00000004700 ENSG00000004700 HGNC:9948 REL gene REL Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 92, MIM# 619652;Combined immunodeficiency;T cells: normal, decreased memory CD4, poor proliferation;B cells: low, mostly naive, few switched memory B cells, impaired proliferation;Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms;Defective innate immunity 31103457;34623332 False 2 0;100;0 1.4865 True ENSG00000162924 ENSG00000162924 HGNC:9954 REPS2 gene REPS2 Expert Review Amber;Other Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females complex neurodevelopmental disorder MONDO:0100038;Cerebral palsy HP:0100021 False 2 0;100;0 1.4865 True ENSG00000169891 ENSG00000169891 HGNC:9963 REXO2 gene REXO2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related 39107301 False 2 0;100;0 1.4865 True ENSG00000076043 ENSG00000076043 HGNC:17851 RFWD3 gene RFWD3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group W, MIM# 617784 28691929;38058754 False 2 0;50;50 1.4865 True ENSG00000168411 ENSG00000168411 HGNC:25539 RHBDF1 gene RHBDF1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy 32870709 False 2 0;100;0 1.4865 True ENSG00000007384 ENSG00000007384 HGNC:20561 RHOB gene RHOB Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral palsy MONDO:0006497, RHOB-related 32989326;39080495 False 2 0;100;0 1.4865 True Other ENSG00000143878 ENSG00000143878 HGNC:668 RHOG gene RHOG Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Genetic HLH, MONDO:0015541, RHOG-related 33513601 False 2 0;100;0 1.4865 True ENSG00000177105 ENSG00000177105 HGNC:672 RHOH gene RHOH Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 22850876;27574848;38775840 False 2 0;50;50 1.4865 True ENSG00000168421 ENSG00000168421 HGNC:686 RHOXF1 gene RHOXF1 Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Spermatogenic failure, MONDO:0004983, RHOXF1-related PMID: 38258527 False 2 0;100;0 1.4865 True ENSG00000101883 ENSG00000101883 HGNC:29993 RIPK3 gene RIPK3 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related;Recurrent HSV encephalitis 37083451 False 2 0;100;0 1.4865 True ENSG00000129465 ENSG00000129465 HGNC:10021 RIPOR2 gene RIPOR2 Expert list;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 104, MIM# 616515;Deafness, autosomal dominant 21, MIM# 607017 24958875;32631815;37164627;37864412 False 2 0;100;0 1.4865 True ENSG00000111913 ENSG00000111913 HGNC:13872 RMI2 gene RMI2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Bloom-like syndrome 27977684 False 2 0;100;0 1.4865 True ENSG00000175643 ENSG00000175643 HGNC:28349 RNASEL gene RNASEL Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related 36538032;9351818 False 2 0;100;0 1.4865 True ENSG00000135828 ENSG00000135828 HGNC:10050 RNF212B gene RNF212B Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, RNF212B-related 37124137;40259604 False 2 0;100;0 1.4865 True ENSG00000215277 ENSG00000215277 HGNC:20438 RNU5A-1 gene RNU5A-1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), RNU5A-1 related 40379786 False 2 0;100;0 1.4865 True ENSG00000199568 ENSG00000199568 HGNC:10211 ROBO4 gene ROBO4 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic valve disease 8, MIM#618496;bicuspid aortic valve;ascending aortic aneurysm;ascending aorta dilatation 30455415;32748548;36855159 False 2 33;67;0 1.4865 True ENSG00000154133 ENSG00000154133 HGNC:17985 ROCK2 gene ROCK2 ClinGen;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital heart disease MONDO:0005453 28554332, 30622330, 31941532 False 2 0;100;0 1.4865 True ENSG00000134318 ENSG00000134318 HGNC:10252 ROR1 gene ROR1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 108, MIM# 617654" 27162350 False 2 0;100;0 1.4865 True ENSG00000185483 ENSG00000185483 HGNC:10256 RPL10L gene RPL10L Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Male infertility MONDO:0005372, RPL10L-related 32111475;39625557 False 2 0;100;0 1.4865 True ENSG00000165496 ENSG00000165496 HGNC:17976 RPL18 gene RPL18 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 18, MIM# 618310 28280134;32075953 False 2 0;100;0 1.4865 True ENSG00000063177 ENSG00000063177 HGNC:10310 RPL27 gene RPL27 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 16, MIM# 617408 25424902;38988374 False 2 0;100;0 1.4865 True ENSG00000131469 ENSG00000131469 HGNC:10328 RPL31 gene RPL31 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia 25042156;25424902 False 2 0;100;0 1.4865 True ENSG00000071082 ENSG00000071082 HGNC:10334 RPL36 gene RPL36 Curated sources;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR);Diamond-Blackfan anemia MONDO:0015253 28297620;19061985;39923319 False 2 0;100;0 1.4865 False ENSG00000130255 ENSG00000130255 HGNC:13631 RPL8 gene RPL8 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia MONDO:0015253 25424902;34961992 False 2 0;100;0 1.4865 True ENSG00000161016 ENSG00000161016 HGNC:10368 RPL9 gene RPL9 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia MONDO:0015253, RPL9-related 29114930;20116044;31799629;34094714 False 2 0;67;33 1.4865 True ENSG00000163682 ENSG00000163682 HGNC:10369 RPS20 gene RPS20 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia 32790018 False 2 0;100;0 1.4865 True Other ENSG00000008988 ENSG00000008988 HGNC:10405 RPS23 gene RPS23 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 28257692 False 2 0;100;0 1.4865 True ENSG00000186468 ENSG00000186468 HGNC:10410 RPS29 gene RPS29 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 13, MIM# 615909 24829207 False 2 0;100;0 1.4865 True ENSG00000213741 ENSG00000213741 HGNC:10419 RPS6KB1 gene RPS6KB1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related 34916228 False 2 100;0;0 1.4865 True ENSG00000108443 ENSG00000108443 HGNC:10436 RRAGA gene RRAGA Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract, MONDO:0005129, RRAGA-related 27294265 False 2 0;100;0 1.4865 True ENSG00000155876 ENSG00000155876 HGNC:16963 RRAS gene RRAS Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome, MONDO:0018997 24705357;32815881 False 2 0;100;0 1.4865 True ENSG00000126458 ENSG00000126458 HGNC:10447 RRM1 gene RRM1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647 35617047 False 2 100;0;0 1.4865 True ENSG00000167325 ENSG00000167325 HGNC:10451 RRP12 gene RRP12 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452 PMID: 41059649 False 2 0;100;0 1.4865 True ENSG00000052749 ENSG00000052749 HGNC:29100 RRP7A gene RRP7A Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Microcephaly 28, primary, autosomal recessive MIM#619453 33199730 False 2 0;100;0 1.4865 True ENSG00000189306 ENSG00000189306 HGNC:24286 RUNDC1 gene RUNDC1 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with pituitary anomalies False 2 0;100;0 1.4865 True ENSG00000198863 ENSG00000198863 HGNC:25418 RUSC2 gene RUSC2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 61 MIM#617773 36553572;27612186 False 2 0;100;0 1.4865 True ENSG00000198853 ENSG00000198853 HGNC:23625 SARDH gene SARDH Expert Review Amber;Literature;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Sarcosinemia MIM#268900;Disorders of serine, glycine or glycerate metabolism 22825317;27604308 False 2 50;50;0 1.4865 True ENSG00000123453 ENSG00000123453 HGNC:10536 SCARB1 gene SCARB1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal High density lipoprotein cholesterol level QTL6 MIM#610762;Scavenger receptor class B type I deficiency;Inherited hypolipidaemias 21226579;30720493;21480869;26965621;27604308 False 2 0;0;0 1.4865 True ENSG00000073060 ENSG00000073060 HGNC:1664 SCGN gene SCGN Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal ulcerative colitis, MONDO:0005101 31663849 False 2 0;100;0 1.4865 True ENSG00000079689 ENSG00000079689 HGNC:16941 SCN3B gene SCN3B Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, SCN3B-related PMID: 40879121 False 2 0;100;0 1.4865 True ENSG00000166257 ENSG00000166257 HGNC:20665 SCP2 gene SCP2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724;Craniofacial microsomia, MONDO:0015397, SCP2-related 16685654;26497993;39941065 False 2 0;50;50 1.4865 True ENSG00000116171 ENSG00000116171 HGNC:10606 SEC16B gene SEC16B Expert Review;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related 28375157;28862642;30652979 False 2 0;100;0 1.4865 True ENSG00000120341 ENSG00000120341 HGNC:30301 SEC23A gene SEC23A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniolenticulosutural dysplasia (MIM# 607812) 16980979;21039434;16980978;27148587;38275611;37828500;34580982 False 2 0;100;0 1.4865 True ENSG00000100934 ENSG00000100934 HGNC:10701 SEC61B gene SEC61B Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease with or without renal cysts 28862642;30652979;28375157 False 2 0;100;0 1.4865 True ENSG00000106803 ENSG00000106803 HGNC:16993 SEMA3E gene SEMA3E Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM#214800 15235037;31691538;31464029;35628442;32441320 False 2 0;100;0 1.4865 True ENSG00000170381 ENSG00000170381 HGNC:10727 SEMA4A gene SEMA4A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 10, 610283;Retinitis pigmentosa 35, 610282 16199541;28805479;23360997;15277503 False 2 0;100;0 1.4865 True ENSG00000196189 ENSG00000196189 HGNC:10729 SEMA5A gene SEMA5A Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;autism 26395558 False 2 0;100;0 1.4865 True ENSG00000112902 ENSG00000112902 HGNC:10736 SEMA7A gene SEMA7A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Decreased bone mineral density;Kallmann syndrome;Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874 16372136;31650878;34585848 False 2 0;100;0 1.4865 True ENSG00000138623 ENSG00000138623 HGNC:10741 SGMS1 gene SGMS1 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 False 2 0;100;0 1.4865 True ENSG00000198964 ENSG00000198964 HGNC:29799 SGO1 gene SGO1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Chronic atrial and intestinal dysrhythmia, MIM# 616201 25282101 False 2 0;100;0 1.4865 True ENSG00000129810 ENSG00000129810 HGNC:25088 SH3KBP1 gene SH3KBP1 Expert list;Expert Review Amber Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 61, MIM# 300310" 29636373;21708930 False 2 0;50;50 1.4865 True ENSG00000147010 ENSG00000147010 HGNC:13867 SHPK gene SHPK Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency MIM#617213 25647543;27604308 False 2 0;100;0 1.4865 True ENSG00000197417 ENSG00000197417 HGNC:1492 SHROOM3 gene SHROOM3 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Anencephaly;cleft lip and palate 32621286 False 2 0;100;0 1.4865 True ENSG00000138771 ENSG00000138771 HGNC:30422 SIDT2 gene SIDT2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Lysosomal storage disease, MONDO:0002561, SIDT2-related PMID: 40541391 False 2 0;100;0 1.4865 True ENSG00000149577 ENSG00000149577 HGNC:24272 SIK3 gene SIK3 Expert list;Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Krakow type - #618162 30232230;22318228 False 2 0;100;0 1.4865 True ENSG00000160584 ENSG00000160584 HGNC:29165 SIPA1L3 gene SIPA1L3 Expert list;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 45 MIM#616851 28951961;27993984;25804400 False 2 0;100;0 1.4865 True ENSG00000105738 ENSG00000105738 HGNC:23801 SIRT6 gene SIRT6 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal syndromic disease, MONDO:0002254, SIRT6-related 29555651;30135584 False 2 50;50;0 1.4865 True ENSG00000077463 ENSG00000077463 HGNC:14934 SLC10A2 gene SLC10A2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Bile acid malabsorption, primary, MIM# 613291 9109432 False 2 0;100;0 1.4865 True ENSG00000125255 ENSG00000125255 HGNC:10906 SLC13A1 gene SLC13A1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal sulfation-related bone disorder MONDO:0019688, SLC13A1-related 36175384;39925707 False 2 0;50;50 1.4865 True ENSG00000081800 ENSG00000081800 HGNC:10916 SLC19A1 gene SLC19A1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia, folate-responsive, MIM# 601775;Combined immunodeficiency, SLC19A1-related MONDO:0015131;myelomeningocele MONDO:0019773, SLC19A1-related 32276275 False 2 0;33;67 1.4865 True ENSG00000173638 ENSG00000173638 HGNC:10937 SLC1A1 gene SLC1A1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Dicarboxylic aminoaciduria, MIM# 222730 21123949 False 2 0;100;0 1.4865 True ENSG00000106688 ENSG00000106688 HGNC:10939 SLC25A10 gene SLC25A10 Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Intractable epileptic encephalopathy;Mitochondrial DNA depletion syndrome 19, MIM# 618972 29211846 False 2 0;100;0 1.4865 True ENSG00000183048 ENSG00000183048 HGNC:10980 SLC25A21 gene SLC25A21 Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome-18, MIM#618811 29517768 False 2 0;100;0 1.4865 True ENSG00000183032 ENSG00000183032 HGNC:14411 SLC26A5 gene SLC26A5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 61, MIM# 613865 24164807;12239568;10821263;11423665;12719379;18466744;27091614;17998209 False 2 0;100;0 1.4865 True ENSG00000170615 ENSG00000170615 HGNC:9359 SLC30A5 gene SLC30A5 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy MONDO:0004994, SLC30A5-related;Perinatal lethal cardiomyopathy 33547425;12095919 False 2 0;100;0 1.4865 True ENSG00000145740 ENSG00000145740 HGNC:19089 SLC30A7 gene SLC30A7 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Joubert syndrome (MONDO:0018772), SLC30A7-related PMID: 35751429 False 2 0;50;50 1.4865 True ENSG00000162695 ENSG00000162695 HGNC:19306 SLC35B2 gene SLC35B2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269 PMID: 35325049 False 2 0;100;0 1.4865 True ENSG00000157593 ENSG00000157593 HGNC:16872 SLC35F1 gene SLC35F1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated;Rett-like syndrome 33821533 False 2 0;50;50 1.4865 True ENSG00000196376 ENSG00000196376 HGNC:21483 SLC36A2 gene SLC36A2 Expert Review Amber;Literature;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria MIM#138500;Iminoglycinuria, digenic MIM#242600;Disorders of amino acid transport 19033659;26141664;27604308 False 2 50;50;0 1.4865 True ENSG00000186335 ENSG00000186335 HGNC:18762 SLC39A5 gene SLC39A5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopia 24, autosomal dominant, MIM# 615946 35002215;34302427;31560770;24891338 False 2 0;100;0 1.4865 True ENSG00000139540 ENSG00000139540 HGNC:20502 SLC4A2 gene SLC4A2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Osteopetrosis, autosomal recessive 9, MIM# 620366" 34668226;20507629 False 2 0;100;0 1.4865 True ENSG00000164889 ENSG00000164889 HGNC:11028 SLC4A7 gene SLC4A7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, SLC4A7-related PMID: 35486108, 32594822 False 2 0;100;0 1.4865 True ENSG00000033867 ENSG00000033867 HGNC:11033 SLC52A1 gene SLC52A1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency, 615026 29122468;17689999;37510312 False 2 0;50;50 1.4865 True ENSG00000132517 ENSG00000132517 HGNC:30225 SLC7A2 gene SLC7A2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046, SLC7A2-related 41015522 False 2 0;100;0 1.4865 True ENSG00000003989 ENSG00000003989 HGNC:11060 SLC9A7 gene SLC9A7 Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 108;OMIM #301024 30335141 False 2 0;100;0 1.4865 True ENSG00000065923 ENSG00000065923 HGNC:17123 SLIT2 gene SLIT2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomaly of kidney and urinary tract MONDO:0019719, SLIT2-related 26026792;15130495;34059960 False 2 0;100;0 1.4865 True ENSG00000145147 ENSG00000145147 HGNC:11086 SLIT3 gene SLIT3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related 33933663 False 2 0;100;0 1.4865 True ENSG00000184347 ENSG00000184347 HGNC:11087 SMDT1 gene SMDT1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, SMDT1-related 37454773 False 2 0;100;0 1.4865 True ENSG00000183172 ENSG00000183172 HGNC:25055 SMN2 gene SMN2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal {Spinal muscular atrophy, type III, modifier of} 253400 False 2 0;100;0 1.4865 True ENSG00000205571 ENSG00000205571 HGNC:11118 SNAI2 gene SNAI2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 2D, MIM# 608890;Piebaldism, MIM# 172800 12444107;30936914;12955764;24443330 False 2 0;100;0 1.4865 True ENSG00000019549 ENSG00000019549 HGNC:11094 SNIP1 gene SNIP1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 22279524;34570759 False 2 0;50;50 1.4865 True ENSG00000163877 ENSG00000163877 HGNC:30587 SPATA13 gene SPATA13 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted primary angle-closure glaucoma MONDO:0001868 PMID: 32339198 False 2 50;50;0 1.4865 True ENSG00000182957 ENSG00000182957 HGNC:23222 SPATC1L gene SPATC1L Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Hearing loss disorder, MONDO:0005365 SPATC1L-related 30177775 False 2 0;100;0 1.4865 True ENSG00000160284 ENSG00000160284 HGNC:1298 SPIN4 gene SPIN4 Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Lui-Jee-Baron syndrome MIM#301114 36927955 False 2 0;100;0 1.4865 True ENSG00000186767 ENSG00000186767 HGNC:27040 SPNS2 gene SPNS2 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 115, MIM# 618457" 25356849 False 2 0;100;0 1.4865 True ENSG00000183018 ENSG00000183018 HGNC:26992 SPRY1 gene SPRY1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Craniosynostosis, SPRY1-related, MONDO:0015469 36543535 False 2 0;50;50 1.4865 True ENSG00000164056 ENSG00000164056 HGNC:11269 SPRY4 gene SPRY4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266 23643382;31200363;31781046;32389901;35316923 False 2 0;100;0 1.4865 True ENSG00000187678 ENSG00000187678 HGNC:15533 SPTSSA gene SPTSSA Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 90B, autosomal recessive , MIM# 620417;Spastic paraplegia 90A, autosomal dominant, MIM# 620416 36718090;40533086 False 2 0;100;0 1.4865 True ENSG00000165389 ENSG00000165389 HGNC:20361 SQOR gene SQOR Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Leigh-like disorder;Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221 32160317 False 2 0;100;0 1.4865 True ENSG00000137767 ENSG00000137767 HGNC:20390 SREBF2 gene SREBF2 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurocutaneous syndrome, MONDO:0042983, SREBF2-related;Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related 38847193;39814172 False 2 0;100;0 1.4865 True ENSG00000198911 ENSG00000198911 HGNC:11290 SREK1 gene SREK1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Prader-Willi-like syndrome, SREK1-related MONDO:0008300 40549565 False 2 0;100;0 1.4865 True ENSG00000153914 ENSG00000153914 HGNC:17882 SRGAP1 gene SRGAP1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT, MONDO:0019719, SRGAP1-related 26026792 False 2 0;100;0 1.4865 True ENSG00000196935 ENSG00000196935 HGNC:17382 SRP19 gene SRP19 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neutropenia, MONDO:0001475, SRP19-related 36223592 False 2 0;100;0 1.4865 True ENSG00000153037 ENSG00000153037 HGNC:11300 SRP68 gene SRP68 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534 32273475 False 2 0;100;0 1.4865 True ENSG00000167881 ENSG00000167881 HGNC:11302 SRP72 gene SRP72 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome 1, MIM# 614675 22541560;31254415;40922878;37176611;41472573;40510848;41142505 False 2 0;100;0 1.4865 True ENSG00000174780 ENSG00000174780 HGNC:11303 SRPRA gene SRPRA Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schwachman-Diamond syndrome MONDO:0009833, SRPA-related 36223592 False 2 0;100;0 1.4865 True ENSG00000182934 ENSG00000182934 HGNC:11307 SSR3 gene SSR3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 30945312 False 2 0;100;0 1.4865 True ENSG00000114850 ENSG00000114850 HGNC:11325 STARD9 gene STARD9 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Syndromic disorder (MONDO:0002254), STARD9-related 41137852;28777490 False 2 0;100;0 1.4865 True ENSG00000159433 ENSG00000159433 HGNC:19162 STX4 gene STX4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 123, MIM# 620745" 36355422;35599850 False 2 0;100;0 1.4865 True ENSG00000103496 ENSG00000103496 HGNC:11439 STX5 gene STX5 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation MONDO#0015286, STX5-related 34711829 False 2 0;100;0 1.4865 True ENSG00000162236 ENSG00000162236 HGNC:11440 SUGCT gene SUGCT Expert Review Amber;Literature;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria III MIM#231690;Organic acidurias 28766179;18926513;33483254;32779420;27604308 False 2 50;50;0 1.4865 True ENSG00000175600 ENSG00000175600 HGNC:16001 SUPT6H gene SUPT6H Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, SUPT6H-related 41864309 False 2 0;100;0 1.4865 True ENSG00000109111 ENSG00000109111 HGNC:11470 SUPV3L1 gene SUPV3L1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 39596606;35023579 False 2 0;100;0 1.4865 True ENSG00000156502 ENSG00000156502 HGNC:11471 SV2A gene SV2A Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, SV2A-related;Developmental and epileptic encephalopathy 113, MIM# 620772 PMID: 37985816 False 2 50;50;0 1.4865 True ENSG00000159164 ENSG00000159164 HGNC:20566 SVIL gene SVIL Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy, MIM#619040 32779703 False 2 0;100;0 1.4865 True ENSG00000197321 ENSG00000197321 HGNC:11480 SYCP3 gene SYCP3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spermatogenic failure 4, MIM# 270960;Pregnancy loss, recurrent, 4, MIM# 270960 14643120;19110213;33170803 False 2 0;100;0 1.4865 True ENSG00000139351 ENSG00000139351 HGNC:18130 TACC3 gene TACC3 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Female infertility due to oocyte meiotic arrest, MONDO:0044626 36395215 False 2 0;100;0 1.4865 True ENSG00000013810 ENSG00000013810 HGNC:11524 TAF13 gene TAF13 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 60, MIM# 617432 28257693;40679298 False 2 0;100;0 1.4865 True ENSG00000197780 ENSG00000197780 HGNC:11546 TAPBP gene TAPBP Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I, MIM# 604571;MHC class I deficiency 3, MIM# 620814 38866210;12149238 False 2 0;50;50 1.4865 True ENSG00000231925 ENSG00000231925 HGNC:11566 TARS gene TARS Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 7, nonphotosensitive;OMIM #618546 31374204 False 2 0;100;0 1.4865 True ENSG00000113407 ENSG00000113407 HGNC:11572 TAX1BP3 gene TAX1BP3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Familial cardiomyopathy, MONDO:0005217, TAX1BP3-related 39963794;25645515 False 2 0;100;0 1.4865 True ENSG00000213977 ENSG00000213977 HGNC:30684 TBCB gene TBCB Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, MIM# 621382 PMID: 40856104 False 2 0;100;0 1.4865 True ENSG00000105254 ENSG00000105254 HGNC:1989 TBX21 gene TBX21 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 88, MIM# 619630;Asthma and nasal polyps, MIM# 208550 33296702;9393345;15496426;15806396 False 2 0;100;0 1.4865 True ENSG00000073861 ENSG00000073861 HGNC:11599 TBXA2R gene TBXA2R Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009 7929844;19828703;22517902 False 2 0;100;0 1.4865 True ENSG00000006638 ENSG00000006638 HGNC:11608 TCN1 gene TCN1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal transcobalamin I deficiency MONDO:0008659 29764838;19686235 False 2 0;100;0 1.4865 True ENSG00000134827 ENSG00000134827 HGNC:11652 TDP1 gene TDP1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 31182267;12244316;39576382 False 2 0;100;0 1.4865 True ENSG00000042088 ENSG00000042088 HGNC:18884 TEAD1 gene TEAD1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sveinsson chorioretinal atrophy, MIM# 108985 26091538;15016762;33864784;17689488;30903741 False 2 0;100;0 1.4865 True ENSG00000187079 ENSG00000187079 HGNC:11714 TEKT3 gene TEKT3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, TEKT3-related 36708031 False 2 0;100;0 1.4865 True ENSG00000125409 ENSG00000125409 HGNC:14293 TENM4 gene TENM4 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092;tremor, hereditary essential, 5 MONDO:0014756;first branchial cleft anomaly MONDO:0015376 41449293;36689009;26188006;29249217;34589676;22915103 False 2 0;100;0 1.4865 False ENSG00000149256 ENSG00000149256 HGNC:29945 TEP1 gene TEP1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy, MONDO:0006497, TEP1-related 34543729 False 2 0;100;0 1.4865 True ENSG00000129566 ENSG00000129566 HGNC:11726 TERB2 gene TERB2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Spermatogenic failure 59, MIM# 619645" 33211200 False 2 0;100;0 1.4865 True ENSG00000167014 ENSG00000167014 HGNC:28520 TFCP2L1 gene TFCP2L1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related 40569305;33097957 False 2 0;100;0 1.4865 True ENSG00000115112 ENSG00000115112 HGNC:17925 TGM3 gene TGM3 Expert Review Amber;Literature;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Uncombable hair syndrome 2 MIM#617251 27866708;26194162 False 2 0;100;0 1.4865 True ENSG00000125780 ENSG00000125780 HGNC:11779 THBS2 gene THBS2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, classic type, 3, MIM# 620865 38433265 False 2 0;50;50 1.4865 True ENSG00000186340 ENSG00000186340 HGNC:11786 THG1L gene THG1L Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800" 27307223;31168944;30214071 False 2 0;100;0 1.4865 True ENSG00000113272 ENSG00000113272 HGNC:26053 THOC1 gene THOC1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss disorder, MONDO:0005365, THOC1-related 32776944 False 2 0;100;0 1.4865 True ENSG00000079134 ENSG00000079134 HGNC:19070 TIA1 gene TIA1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133;Welander distal myopathy (MIM#604454) 29235362;29886022;29773329;29699721;29216908;24659297;29457785;28817800;23401021;23401021 False 2 0;100;0 1.4865 True ENSG00000116001 ENSG00000116001 HGNC:11802 TIMM22 gene TIMM22 Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, TIMM22-related 30452684 False 2 0;100;0 1.4865 True ENSG00000177370 ENSG00000177370 HGNC:17317 TIMP2 gene TIMP2 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent pregnancy loss susceptibility, MONDO:0000144 20847186;34756330 False 2 0;100;0 1.4865 True ENSG00000035862 ENSG00000035862 HGNC:11821 TKFC gene TKFC Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, MIM#618805;Inborn error of immunity, MONDO:0003778, TKFC-related 32004446 False 2 0;100;0 1.4865 True ENSG00000149476 ENSG00000149476 HGNC:24552 TKT gene TKT Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Short stature, developmental delay, and congenital heart defects;OMIM #617044 27259054 False 2 0;100;0 1.4865 True ENSG00000163931 ENSG00000163931 HGNC:11834 TLN1 gene TLN1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted idiopathic spontaneous coronary artery dissection MONDO:0007385;thrombocytopenia, MONDO:0002049, TLN1-related 30888838;35861643;40960860 False 2 0;75;25 1.4865 True ENSG00000137076 ENSG00000137076 HGNC:11845 TMEM132E gene TMEM132E Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 99, MIM# 618481" 25331638 False 2 0;100;0 1.4865 True ENSG00000181291 ENSG00000181291 HGNC:26991 TMEM189 gene TMEM189 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, PEDS1-related 41491239 False 2 0;100;0 1.4865 True ENSG00000240849 ENSG00000240849 HGNC:16735 TMEM65 gene TMEM65 Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, TMEM65-related 28295037 False 2 0;100;0 1.4865 True ENSG00000164983 ENSG00000164983 HGNC:25203 TMEM72 gene TMEM72 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Nephronophthisis, MONDO:0019005, TMEM72-related 41308066 False 2 0;100;0 1.4865 True ENSG00000187783 ENSG00000187783 HGNC:31658 TNFRSF13C gene TNFRSF13C Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 4, MIM# 613494 19666484;26613719 False 2 0;100;0 1.4865 True ENSG00000159958 ENSG00000159958 HGNC:17755 TNIK gene TNIK Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 54, MIM# 617028 27106596;23035106 False 2 0;100;0 1.4865 True ENSG00000154310 ENSG00000154310 HGNC:30765 TNK2 gene TNK2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal late onset infantile epilepsy;Mayer-Rokitansky-K ster-Hauser syndrome 27977884;23686771;31517310 False 2 0;100;0 1.4865 True ENSG00000061938 ENSG00000061938 HGNC:19297 TNNI1 gene TNNI1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis MONDO:0008779, TNNI1-related 34934811 False 2 0;50;50 1.4865 True ENSG00000159173 ENSG00000159173 HGNC:11945 TOM1 gene TOM1 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 85 and autoimmunity, MIM# 619510 31263572;40936361;33864888 False 2 0;50;50 1.4865 True ENSG00000100284 ENSG00000100284 HGNC:11982 TOMM70 gene TOMM70 Expert list;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, TOMM70-related;Leukodystrophy, MONDO:0019046, TOMM70-related 31907385;32356556 False 2 0;100;0 1.4865 True ENSG00000154174 ENSG00000154174 HGNC:11985 TPCN2 gene TPCN2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted albinism, TPCN2-related - MONDO:0043209 20197744;26918892;36641477 False 2 0;67;33 1.4865 True ENSG00000162341 ENSG00000162341 HGNC:20820 TRIM49 gene TRIM49 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa MONDO:0019200 40956390 False 2 0;100;0 1.4865 True ENSG00000168930 ENSG00000168930 HGNC:13431 TRPA1 gene TRPA1 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic pain syndrome, familial, 1, MIM# 615040 20547126;16564016;21468319;28314413;24778270;24564660;20718100 False 2 0;100;0 1.4865 True ENSG00000104321 ENSG00000104321 HGNC:497 TRPC3 gene TRPC3 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 41 MIM#616410 25477146;19351902 False 2 0;100;0 1.4865 True Other ENSG00000138741 ENSG00000138741 HGNC:12335 TRPC4AP gene TRPC4AP Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thyroid hypoplasia, MONDO:0019861, TRPC4AP-related 32428920;26786105 False 2 0;100;0 1.4865 True ENSG00000100991 ENSG00000100991 HGNC:16181 TRPC5 gene TRPC5 Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Neurodevelopmental disorder, MONDO:0700092, TRPC5-related PMID: 36323681;24817631;23033978;33504798;28191890;40907672 False 2 0;100;0 1.4865 True ENSG00000072315 ENSG00000072315 HGNC:12337 TRPM4 gene TRPM4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive familial heart block, type IB, MIM# 604559;Erythrokeratodermia variabilis et progressiva 6, MIM# 618531 19726882;20562447;21887725;20562447;35205305;34897640;30528822 False 2 0;100;0 1.4865 True ENSG00000130529 ENSG00000130529 HGNC:17993 TRPV1 gene TRPV1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Susceptibility to malignant hyperthermia 29930394;32471784 False 2 0;33;67 1.4865 True ENSG00000196689 ENSG00000196689 HGNC:12716 TRU-TCA1-1 gene TRU-TCA1-1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Inherited thyroid metabolism disease, MONDO:0045046, TRU-TCA1-1 related 26854926;34956927 False 2 0;100;0 1.4865 True - - HGNC:12348 TSHZ3 gene TSHZ3 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital anomaly of kidney and urinary tract MONDO:0019719 27668656;34919690;36553458;39420202 False 2 0;100;0 1.4865 True ENSG00000121297 ENSG00000121297 HGNC:30700 TSPAN7 gene TSPAN7 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266 10449641;12070254;10655063;25081361 False 2 0;100;0 1.4865 True ENSG00000156298 ENSG00000156298 HGNC:11854 TTF1 gene TTF1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital hypothyroidism, thyroid dysgenesis, No OMIM # 30022773 False 2 0;100;0 1.4865 True ENSG00000125482 ENSG00000125482 HGNC:12397 TTL gene TTL Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorderMONDO:0100038 False 2 0;0;0 1.4865 True ENSG00000114999 ENSG00000114999 HGNC:21586 TUBA3D gene TUBA3D Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted keratoconus MONDO:0015486 29051577 False 2 0;100;0 1.4865 False ENSG00000075886 ENSG00000075886 HGNC:24071 TUBA8 gene TUBA8 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840 34704371 False 2 0;50;50 1.4865 True ENSG00000183785 ENSG00000183785 HGNC:12410 TULP2 gene TULP2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal male infertility MONDO:0005372 35619658: 33763418;40613306 False 2 0;100;0 1.4865 True ENSG00000104804 ENSG00000104804 HGNC:12424 TXN2 gene TXN2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 29, MIM# 616811 26626369;12529397 False 2 0;100;0 1.4865 True ENSG00000100348 ENSG00000100348 HGNC:17772 TXNIP gene TXNIP Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Metabolic disease MONDO:0005066, TXNIP-related 41116060;30755400 False 2 0;100;0 1.4865 True ENSG00000117289 ENSG00000265972 HGNC:16952 TYMS gene TYMS Expert Review Amber;Literature Mendeliome Other Dyskeratosis congenita, digenic, MIM#620040 35931051 False 2 0;50;50 1.4865 True ENSG00000176890 ENSG00000176890 HGNC:12441 UBR4 gene UBR4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia;progressive neurological deterioration 29062094;23982692;28600779 False 2 0;100;0 1.4865 True ENSG00000127481 ENSG00000127481 HGNC:30313 UCP2 gene UCP2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Obesity, susceptibility to, BMIQ4} 607447;Hyperinsulinism 19065272;11381268 False 2 0;100;0 1.4865 True ENSG00000175567 ENSG00000175567 HGNC:12518 UHRF1 gene UHRF1 Expert Review;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multi locus imprinting disturbance in offspring;chromosome instability 29574422;28976982;36458887;40825131 False 2 0;50;50 1.4865 True ENSG00000034063 ENSG00000276043 HGNC:12556 UNC119 gene UNC119 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cone-rod dystrophy 24, MIM# 620342;Immunodeficiency 13 MIM#615518 11006213;23563732;27079236;22184408;41107067 False 2 50;50;0 1.4865 True ENSG00000109103 ENSG00000109103 HGNC:12565 UNC13C gene UNC13C Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 41399760 False 2 0;100;0 1.4865 True ENSG00000137766 ENSG00000137766 HGNC:23149 UNC50 gene UNC50 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita MONDO:0015168;congenital myasthenic syndrome MONDO:0018940 29016857;33820833;40219868 False 2 0;100;0 1.4865 True ENSG00000115446 ENSG00000115446 HGNC:16046 UQCC3 gene UQCC3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 25008109;28804536 False 2 0;100;0 1.4865 True ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRH gene UQCRH Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 11, MIM#620137 34750991 False 2 0;100;0 1.4865 False ENSG00000173660 ENSG00000173660 HGNC:12590 UQCRQ gene UQCRQ Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 18439546 False 2 0;100;0 1.4865 True ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Urocanase deficiency, MIM#276880 19304569;30619714 False 2 0;100;0 1.4865 True ENSG00000159650 ENSG00000159650 HGNC:26444 USMG5 gene USMG5 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 29917077;30240627;40014158 False 2 0;100;0 1.4865 True ENSG00000173915 ENSG00000173915 HGNC:30889 USP26 gene USP26 Expert list;Expert Review Amber Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Spermatogenic failure, X-linked 6, MIM# 301101 34202084;27089915 False 2 0;100;0 1.4865 True ENSG00000134588 ENSG00000134588 HGNC:13485 USP9Y gene USP9Y Expert Review Amber;Victorian Clinical Genetics Services Mendeliome Other Spermatogenic failure, Y-linked, 2, MIM#415000 10581029;17213277;15509635;19737515 False 2 0;100;0 1.4865 True ENSG00000114374 ENSG00000114374 HGNC:12633 VPS37A gene VPS37A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive, MIM# 614898 22717650 False 2 0;100;0 1.4865 True ENSG00000155975 ENSG00000155975 HGNC:24928 VPS52 gene VPS52 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder with or without congenital anomalies MONDO:0100465 False 2 0;100;0 1.4865 True ENSG00000223501 ENSG00000223501 HGNC:10518 VSX1 gene VSX1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratoconus 1, MIM# 148300 11978762;35296157;30574758;30535423;25963163 False 2 0;100;0 1.4865 True ENSG00000100987 ENSG00000100987 HGNC:12723 WBP2 gene WBP2 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 107, MIM# 617639" 26881968 False 2 0;100;0 1.4865 True ENSG00000132471 ENSG00000132471 HGNC:12738 WDR59 gene WDR59 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254 41715954 False 2 0;100;0 1.4865 True ENSG00000103091 ENSG00000103091 HGNC:25706 WDTC1 gene WDTC1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, WDTC1-related 41793087 False 2 0;100;0 1.4865 True ENSG00000142784 ENSG00000142784 HGNC:29175 WNT4 gene WNT4 Expert List;Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mullerian aplasia and hyperandrogenism (MIM#158330);SERKAL syndrome, OMIM #611812 22503279;21377155;16959810;18179883;15317892;18182450;40992710 False 2 0;100;0 1.4865 True ENSG00000162552 ENSG00000162552 HGNC:12783 WNT6 gene WNT6 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted recurrent pregnancy loss susceptibility, MONDO:0000144 36385415;25750203 False 2 0;100;0 1.4865 True ENSG00000115596 ENSG00000115596 HGNC:12785 WNT9B gene WNT9B Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Renal agenesis/hypoplasia/dysplasia 34145744 False 2 0;100;0 1.4865 True ENSG00000158955 ENSG00000158955 HGNC:12779 WRAP73 gene WRAP73 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis, MONDO:0019503, WRAP73-related 33693649 False 2 0;100;0 1.4865 True ENSG00000116213 ENSG00000116213 HGNC:12759 XRCC2 gene XRCC2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group U, MIM# 617247 27208205;22232082;11118202 False 2 0;100;0 1.4865 True ENSG00000196584 ENSG00000196584 HGNC:12829 YKT6 gene YKT6 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, YKT6-related 38522068 False 2 0;100;0 1.4865 True ENSG00000106636 ENSG00000106636 HGNC:16959 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Optic atrophy 11, MIM#617302;Mitochondrial disease, MONDO:0044970, YME1L1-related 30544562;27495975;40255048 False 2 0;100;0 1.4865 True ENSG00000136758 ENSG00000136758 HGNC:12843 YWHAZ gene YWHAZ Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related 36001342;31024343;35143101;35501409;22124272;26207352;40692796 False 2 0;100;0 1.4865 True ENSG00000164924 ENSG00000164924 HGNC:12855 ZBTB16 gene ZBTB16 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447 18611983 False 2 0;100;0 1.4865 True ENSG00000109906 ENSG00000109906 HGNC:12930 ZBTB42 gene ZBTB42 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 6, MIM# 616248 25055871 False 2 0;100;0 1.4865 True ENSG00000179627 ENSG00000179627 HGNC:32550 ZBTB7B gene ZBTB7B Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inborn error of immunity, MONDO:0003778, ZBTB7B-related 40392549 False 2 0;100;0 1.4865 True ENSG00000160685 ENSG00000160685 HGNC:18668 ZC3H14 gene ZC3H14 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 56;OMIM# 617125 21734151;28666327;33710394 False 2 0;100;0 1.4865 True ENSG00000100722 ENSG00000100722 HGNC:20509 ZDHHC16 gene ZDHHC16 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ZDHHC16-related 39313616 False 2 0;100;0 1.4865 True ENSG00000171307 ENSG00000171307 HGNC:20714 ZDHHC18 gene ZDHHC18 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital heart disease MONDO:0005453 41022857 False 2 0;100;0 1.4865 True ENSG00000204160 ENSG00000204160 HGNC:20712 ZNF143 gene ZNF143 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Combined methylmalonic acidemia and homocystinuria, cblX like 1, MONDO:0002012, ZNF143-related 27349184 False 2 0;50;50 1.4865 True ENSG00000166478 ENSG00000166478 HGNC:12928 ZNF407 gene ZNF407 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal SIMHA syndrome, MIM# 619557;Global developmental delay;Intellectual disability 24907849;32737394;23195952 False 2 0;100;0 1.4865 True ENSG00000215421 ENSG00000215421 HGNC:19904 ZNF423 gene ZNF423 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM# 614844 22863007 False 2 0;67;33 1.4865 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF483 gene ZNF483 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted primary ovarian failure MONDO:0005387 38951643 False 2 0;100;0 1.4865 True ENSG00000173258 ENSG00000173258 HGNC:23384 ZNF513 gene ZNF513 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 58 MIM#613617 20797688 False 2 0;100;0 1.4865 True ENSG00000163795 ENSG00000163795 HGNC:26498 ZNF668 gene ZNF668 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 34313816;26633546 False 2 50;50;0 1.4865 True ENSG00000167394 ENSG00000167394 HGNC:25821 ZNF865 gene ZNF865 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ZNF865 associated neurodevelopmental disorder MONDO:0700092 40936200 False 2 0;100;0 1.4865 True ENSG00000261221 ENSG00000261221 HGNC:38705 ZPR1 gene ZPR1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies 619321" 29851065 False 2 0;50;50 1.4865 True ENSG00000109917 ENSG00000109917 HGNC:13051 DIP2B_FRA12A_CGG str DIP2B Expert Review Amber;Other Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant, FRA12A type MIM#136630 17236128;33510257;39854091;41028987 False 2 0;100;0 1.4865 True ENSG00000066084 ENSG00000066084 HGNC:29284 12 50898787 50898807 50505004 50505024 CGG 23 280 RAPGEF2_FAME7_TTTCA str RAPGEF2 Literature;Expert Review Amber;Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial adult myoclonic, 7 MIM#618075 29507423;30351492;33791773 False 2 0;100;0 1.4865 False ENSG00000109756 ENSG00000109756 HGNC:16854 4 160263679 160263768 159342527 159342616 TTTCA 0 1