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 1.2304 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 1.2304 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 1.2304 True ENSG00000117528 ENSG00000117528 HGNC:67 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000176715 ENSG00000176715 HGNC:27288 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 1.2304 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 1.2304 True ENSG00000143199 ENSG00000143199 HGNC:21285 ADCY3 gene ADCY3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal {Obesity, susceptibility to, BMIQ19} MIM#617885 11055432;29311636;29311637 False 2 0;100;0 1.2304 True ENSG00000138031 ENSG00000138031 HGNC:234 ADIPOR1 gene ADIPOR1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 27655171;26662040 False 2 0;100;0 1.2304 True ENSG00000159346 ENSG00000159346 HGNC:24040 AFP gene AFP Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Alpha-fetoprotein deficiency MIM#615969;[Hereditary persistence of alpha-fetoprotein] MIM#615970 15280901;18854864 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 False 2 0;100;0 1.2304 True ENSG00000106546 ENSG00000106546 HGNC:348 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 1.2304 True ENSG00000151320 ENSG00000151320 HGNC:376 ALG2 gene ALG2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228;Congenital disorder of glycosylation, type Ii, MIM# 607906 23404334;24461433;12684507 False 2 0;100;0 1.2304 True ENSG00000119523 ENSG00000119523 HGNC:23159 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 1.2304 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 1.2304 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 1.2304 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 50;50;0 1.2304 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 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000152056 ENSG00000152056 HGNC:18971 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 1.2304 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 1.2304 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 1.2304 True ENSG00000184831 ENSG00000184831 HGNC:28727 AQP1 gene AQP1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary arterial hypertension MONDO:0015924, AQP1-related PMID:22683574;29650961;37007933;35627312 False 2 50;50;0 1.2304 True ENSG00000240583 ENSG00000240583 HGNC:633 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 1.2304 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 1.2304 True ENSG00000171885 ENSG00000171885 HGNC:637 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 1.2304 True ENSG00000120318 ENSG00000120318 HGNC:24097 ARHGEF1 gene ARHGEF1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 62, MIM#618459 30521495 False 2 0;50;50 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000165801 ENSG00000165801 HGNC:25516 ARNT2 gene ARNT2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Webb-Dattani syndrome MONDO:0014404 11381139;24022475 False 2 0;100;0 1.2304 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 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000111339 ENSG00000111339 HGNC:726 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 1.2304 True ENSG00000139352 ENSG00000139352 HGNC:738 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000172238 ENSG00000172238 HGNC:797 ATP2B3 gene ATP2B3 Expert Review Amber;GeneReviews;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinocerebellar ataxia, X-linked 1, MIM#302500 22912398;27653636;27632770 False 2 0;100;0 1.2304 True ENSG00000067842 ENSG00000067842 HGNC:816 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 1.2304 True ENSG00000058668 ENSG00000058668 HGNC:817 ATP5A1 gene ATP5A1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 22 616045;Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 23599390 False 2 33;67;0 1.2304 True ENSG00000152234 ENSG00000152234 HGNC:823 ATP5B gene ATP5B Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited dystonia, MONDO:0044807, ATP5B-related 36860166;36239646 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000175334 ENSG00000175334 HGNC:17397 BBIP1 gene BBIP1 Expert Review Amber;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, MIM#615995 24026985;32055034 False 2 0;100;0 1.2304 True ENSG00000214413 ENSG00000214413 HGNC:28093 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 1.2304 True ENSG00000186174 ENSG00000186174 HGNC:23688 BCORL1 gene BCORL1 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) Shukla-Vernon syndrome, MIM#301029 24123876;30941876 False 2 0;100;0 1.2304 True ENSG00000085185 ENSG00000085185 HGNC:25657 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 1.2304 True ENSG00000105829 ENSG00000105829 HGNC:14562 BLK gene BLK Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Common variable immunodeficiency, MONDO:0015517 19667185;23224494;28095440;25926555 False 2 0;50;50 1.2304 True ENSG00000136573 ENSG00000136573 HGNC:1057 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 1.2304 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 1.2304 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 1.2304 True ENSG00000152785 ENSG00000152785 HGNC:1070 BNIP1 gene BNIP1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal spondyloepiphyseal dysplasia MONDO:0016761 35266227;31344970 False 2 0;100;0 1.2304 True ENSG00000113734 ENSG00000113734 HGNC:1082 BPGM gene BPGM Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocytosis, familial, 8, MIM# 222800 1421379;27651169;25015942 False 2 0;100;0 1.2304 True ENSG00000172331 ENSG00000172331 HGNC:1093 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 1.2304 True ENSG00000169679 ENSG00000169679 HGNC:1148 BUD13 gene BUD13 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, MONDO:0006573 35670808 False 2 0;100;0 1.2304 True ENSG00000137656 ENSG00000137656 HGNC:28199 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 1.2304 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 1.2304 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 1.2304 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 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000224389 ENSG00000224389 HGNC:1324 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 1.2304 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 1.2304 True ENSG00000157131 ENSG00000157131 HGNC:1352 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 1.2304 True ENSG00000182389 ENSG00000182389 HGNC:1404 CAMK2G gene CAMK2G Expert Review;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 59, MIM# 618522 30184290;23033978 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000126247 ENSG00000126247 HGNC:1481 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 1.2304 True ENSG00000105483 ENSG00000105483 HGNC:17057 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 1.2304 True ENSG00000105141 ENSG00000105141 HGNC:1502 CASP8 gene CASP8 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 12353035;25814141;12654726;17213198;16148088 False 2 0;0;100 1.2304 True ENSG00000064012 ENSG00000064012 HGNC:1509 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 1.2304 True ENSG00000166762 ENSG00000166762 HGNC:18810 CCDC141 gene CCDC141 Expert Review Amber;Literature Mendeliome Unknown Anosmic hypogonadotropic hypogonadism 27014940;28324054;25192046 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000186166 ENSG00000186166 HGNC:30460 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 1.2304 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 1.2304 True ENSG00000150753 ENSG00000150753 HGNC:1618 CD274 gene CD274 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 38634869 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000153283 ENSG00000153283 HGNC:16892 CDK5 gene CDK5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342 25560765;32273484;32097629;28854363;7490100 False 2 0;100;0 1.2304 True ENSG00000164885 ENSG00000164885 HGNC:1774 CDK6 gene CDK6 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Microcephaly 12, primary, autosomal recessive, MIM#616080 23918663 False 2 0;100;0 1.2304 True ENSG00000105810 ENSG00000105810 HGNC:1777 CEL gene CEL Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young, type VIII 24062244;21784842;19760265;18544793;17989309;16369531;29233499;27650499 False 2 0;50;50 1.2304 True ENSG00000170835 ENSG00000170835 HGNC:1848 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 1.2304 True Other ENSG00000219073 ENSG00000219073 HGNC:15945 CEP112 gene CEP112 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 44, MIM#619044;Acephalic spermatozoa;infertility 31654588 False 2 0;100;0 1.2304 True ENSG00000154240 ENSG00000154240 HGNC:28514 CEP162 gene CEP162 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa MONDO:0019200, CEP162-related 36862503 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000087237 ENSG00000087237 HGNC:1869 CFAP206 gene CFAP206 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Multiple morphological abnormalities of the flagella 34255152 False 2 0;100;0 1.2304 True ENSG00000272514 ENSG00000272514 HGNC:21405 CFAP74 gene CFAP74 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia;infertility 32555313 False 2 0;100;0 1.2304 True ENSG00000142609 ENSG00000142609 HGNC:29368 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000186510 ENSG00000186510 HGNC:2026 CLIC5 gene CLIC5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 103, MIM# 616042 24781754;17021174 False 2 0;100;0 1.2304 True ENSG00000112782 ENSG00000112782 HGNC:13517 CLRN2 gene CLRN2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Non-syndromic hearing loss;Deafness, autosomal recessive 117, MIM# 619174" 33496845 False 2 0;100;0 1.2304 True ENSG00000249581 ENSG00000249581 HGNC:33939 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 1.2304 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 1.2304 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 1.2304 True ENSG00000142675 ENSG00000142675 HGNC:19700 CNP gene CNP Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 20, MIM# 619071 32128616;12590258 False 2 0;100;0 1.2304 True ENSG00000173786 ENSG00000173786 HGNC:2158 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 1.2304 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 1.2304 True ENSG00000136152 ENSG00000136152 HGNC:18619 COL4A6 gene COL4A6 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 6 MIM#300914 23714752;12784310;33840813 False 2 33;33;33 1.2304 True ENSG00000197565 ENSG00000197565 HGNC:2208 COPB1 gene COPB1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Baralle-Macken syndrome, MIM# 619255;Severe intellectual disability;variable microcephaly;cataracts" 33632302 False 2 0;100;0 1.2304 True ENSG00000129083 ENSG00000129083 HGNC:2231 COPG1 gene COPG1 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 128, MIM# 620983 33529166 False 2 0;100;0 1.2304 True ENSG00000181789 ENSG00000181789 HGNC:2236 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 1.2304 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 1.2304 True ENSG00000133983 ENSG00000133983 HGNC:20213 COX4I1 gene COX4I1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 28766551;22592081;31290619 False 2 0;100;0 1.2304 True ENSG00000131143 ENSG00000131143 HGNC:2265 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 1.2304 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 1.2304 True ENSG00000214575 ENSG00000214575 HGNC:21744 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 1.2304 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 1.2304 True ENSG00000113851 ENSG00000113851 HGNC:30185 CREB3L3 gene CREB3L3 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertriglyceridaemia-2, MIM#619324 32580631;29954705;27982131;27291420;26427795;21666694 False 2 0;100;0 1.2304 True ENSG00000060566 ENSG00000060566 HGNC:18855 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 1.2304 True ENSG00000141551 ENSG00000141551 HGNC:2452 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 1.2304 True ENSG00000101811 ENSG00000101811 HGNC:2484 CTGF gene CTGF Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Kyphomelic dysplasia MONDO:0008881;Spondyloepimetaphyseal dysplasia MONDO:0100510 39506047;39414788;20534727 False 2 0;50;50 1.2304 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 1.2304 True ENSG00000116761 ENSG00000116761 HGNC:2501 CTNNA3 gene CTNNA3 ClinGen;Expert Review Amber 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;100;0 1.2304 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 1.2304 True ENSG00000132792 ENSG00000132792 HGNC:15879 CTNND2 gene CTNND2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CTNND2-related 25839933;29127138;25807484 False 2 0;100;0 1.2304 True ENSG00000169862 ENSG00000169862 HGNC:2516 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 1.2304 True ENSG00000162438 ENSG00000162438 HGNC:2523 CYS1 gene CYS1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, MONDO:0020642 34521872 False 2 0;100;0 1.2304 True ENSG00000205795 ENSG00000205795 HGNC:18525 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 1.2304 True ENSG00000165617 ENSG00000165617 HGNC:17748 DALRD3 gene DALRD3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy;Epileptic encephalopathy, early infantile, 86 618910" 32427860;39482881 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000169738 ENSG00000169738 HGNC:18985 DDOST gene DDOST Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, MIM# 614507 22305527 False 2 50;50;0 1.2304 True ENSG00000244038 ENSG00000244038 HGNC:2728 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 1.2304 True ENSG00000062282 ENSG00000062282 HGNC:16940 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 1.2304 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 False 2 0;100;0 1.2304 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 False 2 0;100;0 1.2304 True ENSG00000211452 ENSG00000211452 HGNC:2883 DLG2 gene DLG2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability (MONDO#0001071), DLG2-related PMID: 37860969 False 2 0;100;0 1.2304 True ENSG00000150672 ENSG00000150672 HGNC:2901 DMGDH gene DMGDH Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Dimethylglycine dehydrogenase deficiency MIM#605850;Disorders and variants of other enzymes that oxidise xenobiotics 11231903;18937046;28881522;27604308 False 2 0;100;0 1.2304 True ENSG00000132837 ENSG00000132837 HGNC:24475 DMRT1 gene DMRT1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46,XY disorder of sex development, MONDO:0020040 31479588;24934491;29527098 False 2 0;100;0 1.2304 True ENSG00000137090 ENSG00000137090 HGNC:2934 DNAH6 gene DNAH6 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Heterotaxy, Azoospermia PMID: 26918822 False 2 0;100;0 1.2304 True ENSG00000115423 ENSG00000115423 HGNC:2951 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 1.2304 True ENSG00000119661 ENSG00000119661 HGNC:23247 DPH2 gene DPH2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062;Diphthamide-deficiency syndrome 32576952;27421267 False 2 0;100;0 1.2304 True ENSG00000132768 ENSG00000132768 HGNC:3004 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 1.2304 True ENSG00000092964 ENSG00000092964 HGNC:3014 DROSHA gene DROSHA Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), DROSHA-related 35405010 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000134762 ENSG00000134762 HGNC:3037 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;50;50 1.2304 True ENSG00000133059 ENSG00000133059 HGNC:29043 DUOX1 gene DUOX1 Expert Review;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital hypothyroidism, No OMIM # 29650690 False 2 0;100;0 1.2304 True ENSG00000137857 ENSG00000137857 HGNC:3062 DUOXA1 gene DUOXA1 Expert Review;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital hypothyroidism, No OMIM # 29650690 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000004975 ENSG00000004975 HGNC:3086 DYRK1B gene DYRK1B Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Abdominal obesity-metabolic syndrome 3 - MIM#615812 34193236;34786696;24827035;28743892 False 2 0;100;0 1.2304 True ENSG00000105204 ENSG00000105204 HGNC:3092 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 1.2304 True ENSG00000134874 ENSG00000134874 HGNC:20908 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 1.2304 True ENSG00000078401 ENSG00000078401 HGNC:3176 EEF1D gene EEF1D Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, EEF1D-related 30787422;28097321 False 2 0;100;0 1.2304 True ENSG00000104529 ENSG00000104529 HGNC:3211 EFCAB7 gene EFCAB7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Polydactyly (MONDO:0021003), EFCAB7-related PMID: 37684519 False 2 0;100;0 1.2304 True ENSG00000203965 ENSG00000203965 HGNC:29379 EFNA4 gene EFNA4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted craniosynostosis MONDO:0015469 16540516;19201948;19772933;23983218;29168297;29215649;33065355;34586326 False 2 0;100;0 1.2304 True ENSG00000243364 ENSG00000243364 HGNC:3224 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 1.2304 True ENSG00000110047 ENSG00000110047 HGNC:3242 EIF2A gene EIF2A Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability, epilepsy PMID: 31130284 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000084623 ENSG00000084623 HGNC:3272 EIF4ENIF1 gene EIF4ENIF1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related 31810472;23902945;33095795 False 2 0;100;0 1.2304 True ENSG00000184708 ENSG00000184708 HGNC:16687 EMG1 gene EMG1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Bowen-Conradi syndrome, MIM#211180 19463982 False 2 0;100;0 1.2304 True ENSG00000126749 ENSG00000126749 HGNC:16912 EMP2 gene EMP2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal nephrotic syndrome, type 10 MONDO:0014373 24814193;31508419 False 2 0;100;0 1.2304 True ENSG00000213853 ENSG00000213853 HGNC:3334 EMX2 gene EMX2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schizencephaly, MIM# 269160 8528262;9359037;9153481;9153481;18409201 False 2 0;100;0 1.2304 True ENSG00000170370 ENSG00000170370 HGNC:3341 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 1.2304 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 1.2304 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 1.2304 True ENSG00000132591 ENSG00000132591 HGNC:3424 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 1.2304 True ENSG00000112851 ENSG00000112851 HGNC:15842 ERGIC3 gene ERGIC3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability PMID: 33710394;31585110 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000140009 ENSG00000140009 HGNC:3468 ESRP1 gene ESRP1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 109, MIM# 618013" 29107558 False 2 0;100;0 1.2304 True ENSG00000104413 ENSG00000104413 HGNC:25966 ESRP2 gene ESRP2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft lip 29805042 False 2 0;100;0 1.2304 True ENSG00000103067 ENSG00000103067 HGNC:26152 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 1.2304 True ENSG00000112685 ENSG00000112685 HGNC:24968 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 1.2304 True ENSG00000130713 ENSG00000130713 HGNC:17097 FAM20B gene FAM20B Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia MONDO:0015426 30847897;30105814;22732358;27405802 False 2 0;100;0 1.2304 True ENSG00000116199 ENSG00000116199 HGNC:23017 FAM92A gene FAM92A Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Polydactyly, postaxial, type A9, MIM# 618219" 30395363 False 2 0;100;0 1.2304 True ENSG00000188343 ENSG00000188343 HGNC:30452 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 1.2304 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 1.2304 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 1.2304 True ENSG00000203747 ENSG00000203747 HGNC:3619 FCN3 gene FCN3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to ficolin 3 deficiency, MIM# 613860 25662573;22226667;19535802;20971976 False 2 0;100;0 1.2304 True ENSG00000142748 ENSG00000142748 HGNC:3625 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 1.2304 True ENSG00000128610 ENSG00000128610 HGNC:22788 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 1.2304 True ENSG00000078579 ENSG00000078579 HGNC:3677 FGL2 gene FGL2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, FGL2-related 36243222 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000115641 ENSG00000115641 HGNC:3703 FIBP gene FIBP Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Thauvin-Robinet-Faivre syndrome, MIM#617107 26660953;27183861 False 2 0;100;0 1.2304 True ENSG00000172500 ENSG00000172500 HGNC:3705 FKBP4 gene FKBP4 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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;holoprosencephaly 18538293;19933292;32003456;12094232;16304598 False 2 0;100;0 1.2304 True ENSG00000160973 ENSG00000160973 HGNC:3814 FOXR1 gene FOXR1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Postnatal microcephaly, progressive brain atrophy and global developmental delay 34723967 False 2 0;100;0 1.2304 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 False 2 0;100;0 1.2304 True ENSG00000151474 ENSG00000151474 HGNC:25491 FRY gene FRY Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability 31487712;27457812;21937992 False 2 0;100;0 1.2304 True ENSG00000073910 ENSG00000073910 HGNC:20367 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 1.2304 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 1.2304 True ENSG00000148935 ENSG00000148935 HGNC:4167 GAS2L2 gene GAS2L2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 41 (MIM # 618449) 30665704 False 2 0;100;0 1.2304 True ENSG00000132139 ENSG00000270765 HGNC:24846 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 1.2304 True ENSG00000130700 ENSG00000130700 HGNC:15802 GGN gene GGN Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Spermatogenic failure 69, MIM# 619826" 31985809;33108537 False 2 0;100;0 1.2304 True ENSG00000179168 ENSG00000179168 HGNC:18869 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 1.2304 True ENSG00000100031 ENSG00000100031 HGNC:4250 GHSR gene GHSR Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency, isolated partial, MIM# 615925 25557026;19789204;16511605 False 2 0;100;0 1.2304 True ENSG00000121853 ENSG00000121853 HGNC:4267 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 1.2304 True ENSG00000143140 ENSG00000265107 HGNC:4279 GNAI2 gene GNAI2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Pituitary adenoma, ACTH-secreting, somatic;Ventricular tachycardia, idiopathic 192605;Syndromic developmental disorder" PMID: 31036916 False 2 0;100;0 1.2304 True ENSG00000114353 ENSG00000114353 HGNC:4385 GNPNAT1 gene GNPNAT1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Rhizomelic dysplasia, Ain-Naz type, MIM#619598 32591345 False 2 33;67;0 1.2304 True ENSG00000100522 ENSG00000100522 HGNC:19980 GPN2 gene GPN2 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Perrault syndrome False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000166923 ENSG00000166923 HGNC:2001 GRK2 gene GRK2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770 33200460 False 2 0;100;0 1.2304 True ENSG00000173020 ENSG00000173020 HGNC:289 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 1.2304 True ENSG00000104687 ENSG00000104687 HGNC:4623 GSX2 gene GSX2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Diencephalic-mesencephalic junction dysplasia syndrome 2 618646" PMID: 31412107 False 2 100;0;0 1.2304 True ENSG00000180613 ENSG00000180613 HGNC:24959 GTF2E2 gene GTF2E2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, MIM# 616943;MONDO:0014841 26996949 False 2 0;100;0 1.2304 True ENSG00000197265 ENSG00000197265 HGNC:4651 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 1.2304 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 1.2304 True ENSG00000084110 ENSG00000084110 HGNC:4806 HAND1 gene HAND1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 31286141;29016838;29317578;29179274;28112363;27942761;26581070 False 2 0;100;0 1.2304 True ENSG00000113196 ENSG00000113196 HGNC:4807 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 1.2304 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 1.2304 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 1.2304 True Other ENSG00000101336 ENSG00000101336 HGNC:4840 HEATR5B gene HEATR5B Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia;intellectual disability;seizures PMID: 33824466 False 2 0;100;0 1.2304 True ENSG00000008869 ENSG00000008869 HGNC:29273 HELQ gene HELQ Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency 34794894;24005329;33095795 False 2 0;100;0 1.2304 True ENSG00000163312 ENSG00000163312 HGNC:18536 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000114378 ENSG00000114378 HGNC:5320 ICE1 gene ICE1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability, cerebral atrophy PMID: 31130284 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000111537 ENSG00000111537 HGNC:5438 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;50;50 1.2304 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 1.2304 True ENSG00000211592 ENSG00000211592 HGNC:5716 IGSF10 gene IGSF10 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal delayed puberty;hypogonadotropic hypogonadism;primary ovary insufficiency 27137492;31042289 False 2 0;100;0 1.2304 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 1.2304 True - - HGNC:14552 IL17RD gene IL17RD Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267 23643382;32389901 False 2 0;100;0 1.2304 True ENSG00000144730 ENSG00000144730 HGNC:17616 IL27RA gene IL27RA Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Epstein-Barr virus infection MONDO:0005111 , IL27RA-related 38509369 False 2 0;100;0 1.2304 True ENSG00000104998 ENSG00000104998 HGNC:17290 IL6R gene IL6R Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Recurrent pyogenic infections, cold abscesses;High circulating IL-6 levels;High IgE;IgE recurrent infection syndrome, MIM#618944 31235509 False 2 0;100;0 1.2304 True ENSG00000160712 ENSG00000160712 HGNC:6019 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 1.2304 True ENSG00000133731 ENSG00000133731 HGNC:6050 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 1.2304 True ENSG00000128908 ENSG00000128908 HGNC:26956 INSL3 gene INSL3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cryptorchidism, MIM# 219050 12601553;12970298;11095425 False 2 0;100;0 1.2304 True ENSG00000248099 ENSG00000248099 HGNC:6086 IQSEC3 gene IQSEC3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability PMID: 31130284 False 2 0;100;0 1.2304 True ENSG00000120645 ENSG00000120645 HGNC:29193 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 26513235 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True Other ENSG00000159387 ENSG00000159387 HGNC:14675 ISLR2 gene ISLR2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal hydrocephalus;arthrogryposis;abdominal distension 30483960 False 2 0;100;0 1.2304 True ENSG00000167178 ENSG00000167178 HGNC:29286 ITGAV gene ITGAV Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, ITGAV-related 39526957 False 2 0;100;0 1.2304 True ENSG00000138448 ENSG00000138448 HGNC:6150 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 1.2304 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 1.2304 True ENSG00000152969 ENSG00000152969 HGNC:26460 JPH2 gene JPH2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, MIM#613873;Cardiomyopathy, dilated, 2E, MIM# 619492 30681346;17509612;23973696;26869393;28393127;30235249;31227780 False 2 0;100;0 1.2304 True ENSG00000149596 ENSG00000149596 HGNC:14202 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 1.2304 True ENSG00000154118 ENSG00000154118 HGNC:14203 KANK4 gene KANK4 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 25961457 False 2 0;0;100 1.2304 True ENSG00000132854 ENSG00000132854 HGNC:27263 KATNAL2 gene KATNAL2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oligo-astheno-teratozoospermia;Autism 34096614;22495311;21572417;22495309;22495306 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000162989 ENSG00000162989 HGNC:6264 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 1.2304 True ENSG00000138030 ENSG00000138030 HGNC:6315 KIAA1217 gene KIAA1217 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vertebral anomalies, syndromic and non-syndromic 32369272 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000133116 ENSG00000133116 HGNC:6344 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 1.2304 True ENSG00000161594 ENSG00000161594 HGNC:18829 KLHL15 gene KLHL15 Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 103, MIM#300982 25644381;24817631 False 2 0;100;0 1.2304 True ENSG00000174010 ENSG00000174010 HGNC:29347 KLHL9 gene KLHL9 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 20554658 False 2 0;100;0 1.2304 True ENSG00000198642 ENSG00000198642 HGNC:18732 KLKB1 gene KLKB1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Fletcher factor (prekallikrein) deficiency, MIM# 612423 15461630;33073460 False 2 0;100;0 1.2304 True ENSG00000164344 ENSG00000164344 HGNC:6371 KNG1 gene KNG1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-6 (HAE6), MIM#619363 31087670;33114181 False 2 0;100;0 1.2304 True ENSG00000113889 ENSG00000113889 HGNC:6383 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 1.2304 True ENSG00000185467 ENSG00000185467 HGNC:21839 KREMEN1 gene KREMEN1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 13, hair/tooth type MIM#617392 27049303;27550540 False 2 0;100;0 1.2304 True ENSG00000183762 ENSG00000183762 HGNC:17550 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 1.2304 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 1.2304 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#158000 27965375;15744029;25557232 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000138136 ENSG00000138136 HGNC:16960 LCP1 gene LCP1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome, MONDO:0000159, LCP1-related 38710235 False 2 0;100;0 1.2304 True ENSG00000136167 ENSG00000136167 HGNC:6528 LEMD2 gene LEMD2 Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Marbach-Rustad progeroid syndrome, OMIM# 619322;arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587;Cataract 46, juvenile-onset, OMIM# 212500 31061923;26788539;30905398;36377660 False 2 0;100;0 1.2304 True ENSG00000161904 ENSG00000161904 HGNC:21244 LEO1 gene LEO1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, LEO-1 related 38965372 False 2 0;100;0 1.2304 True ENSG00000166477 ENSG00000166477 HGNC:30401 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 1.2304 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 1.2304 True ENSG00000169783 ENSG00000169783 HGNC:21205 LMAN2L gene LMAN2L Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal recessive, 52 OMIM #616887;Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 31020005;26566883 False 2 0;100;0 1.2304 True ENSG00000114988 ENSG00000114988 HGNC:19263 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 1.2304 True ENSG00000163431 ENSG00000163431 HGNC:6647 LOXL3 gene LOXL3 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Stickler syndrome 30362103;25663169 False 2 0;100;0 1.2304 True ENSG00000115318 ENSG00000115318 HGNC:13869 LRIF1 gene LRIF1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy 32467133 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000123384 ENSG00000123384 HGNC:6692 LRRC23 gene LRRC23 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 92, MIM# 620848 37804054;38091523 False 2 0;50;50 1.2304 True ENSG00000010626 ENSG00000010626 HGNC:19138 LRRC32 gene LRRC32 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 30976112 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True Other ENSG00000171488 ENSG00000171488 HGNC:25075 LSM7 gene LSM7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal leukodystrophy MONDO:0019046, LRM7-related DOI:https://doi.org/10.1016/j.xhgg.2021.100034 False 2 0;100;0 1.2304 True ENSG00000130332 ENSG00000130332 HGNC:20470 LSR gene LSR Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal transient neonatal cholestasis;intellectual disability;short stature 30250217;32303357 False 2 0;100;0 1.2304 True ENSG00000105699 ENSG00000105699 HGNC:29572 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 1.2304 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 1.2304 True ENSG00000214113 ENSG00000214113 HGNC:21365 MAL gene MAL Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 28, MIM# 620978 35217805 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000165072 ENSG00000165072 HGNC:23673 MAN2B2 gene MAN2B2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related;immunodeficiency 38622837;35637269;31775018 False 2 0;67;33 1.2304 True ENSG00000013288 ENSG00000013288 HGNC:29623 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 1.2304 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 1.2304 True ENSG00000107643 ENSG00000107643 HGNC:6881 MASTL gene MASTL Expert Review Amber;Victorian Clinical Genetics Services Mendeliome Unknown False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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;50;50 1.2304 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 1.2304 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 1.2304 True ENSG00000104738 ENSG00000104738 HGNC:6947 MCM7 gene MCM7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome;Microcephaly;Intellectual disability;Lipodystrophy;Adrenal insufficiency 33654309;34059554 False 2 0;100;0 1.2304 True ENSG00000166508 ENSG00000166508 HGNC:6950 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 False 2 0;100;0 1.2304 True ENSG00000014641 ENSG00000014641 HGNC:6970 MDM4 gene MDM4 Expert Review Amber;Other Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted bone marrow failure syndrome MONDO:0000159, MDM4-related 32300648;33104793 False 2 0;100;0 1.2304 True ENSG00000198625 ENSG00000198625 HGNC:6974 MED22 gene MED22 Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 False 2 0;100;0 1.2304 True ENSG00000148297 ENSG00000148297 HGNC:11477 MEPE gene MEPE Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary congenital facial paresis;otosclerosis 30287925 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000174197 ENSG00000174197 HGNC:14010 MIA3 gene MIA3 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269" 32101163;33778321 False 2 0;100;0 1.2304 True ENSG00000154305 ENSG00000154305 HGNC:24008 MIB1 gene MIB1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 7 MIM#615092;cardiomyopathy;congenital heart disease 23314057;30322850;23033978;33057194 False 2 0;100;0 1.2304 True ENSG00000101752 ENSG00000101752 HGNC:21086 MICAL1 gene MICAL1 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant epilepsy with auditory features (ADEAF) 29394500;21638339 False 2 0;100;0 1.2304 True ENSG00000135596 ENSG00000135596 HGNC:20619 MIR204 gene MIR204 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) 26056285;37321975 False 2 100;0;0 1.2304 True Other ENSG00000207935 ENSG00000207935 HGNC:31582 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 1.2304 True ENSG00000199158 ENSG00000199158 HGNC:31648 MKL1 gene MKL1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Neutropaenia with combined immune deficiency 32128589;26224645 False 2 0;100;0 1.2304 True ENSG00000196588 ENSG00000196588 HGNC:14334 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 1.2304 True Other ENSG00000186260 ENSG00000186260 HGNC:29819 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 1.2304 True ENSG00000169446 ENSG00000169446 HGNC:28100 MMP15 gene MMP15 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Cholestasis;Congenital heart disease 33875846 False 2 0;100;0 1.2304 True ENSG00000102996 ENSG00000102996 HGNC:7161 MOCS3 gene MOCS3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency MONDO:0020480 33897766;28544736 False 2 0;100;0 1.2304 True ENSG00000124217 ENSG00000124217 HGNC:15765 MOV10L1 gene MOV10L1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 73, MIM#619878 35476666;20534472 False 2 0;100;0 1.2304 True ENSG00000073146 ENSG00000073146 HGNC:7201 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 1.2304 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 1.2304 True ENSG00000005381 ENSG00000005381 HGNC:7218 MRAP2 gene MRAP2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Susceptibility to obesity, MIM#615457 23869016;31700171;27474872;26795956 False 2 0;100;0 1.2304 True ENSG00000135324 ENSG00000135324 HGNC:21232 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 1.2304 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 1.2304 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 1.2304 True ENSG00000182180 ENSG00000182180 HGNC:14048 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 1.2304 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 1.2304 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 1.2304 True ENSG00000099810 ENSG00000099810 HGNC:7413 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 1.2304 True ENSG00000163719 ENSG00000163719 HGNC:26190 MYL1 gene MYL1 Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414 30215711 False 2 0;100;0 1.2304 True ENSG00000168530 ENSG00000168530 HGNC:7582 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 1.2304 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 1.2304 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 1.2304 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 False 2 0;50;50 1.2304 True ENSG00000099331 ENSG00000099331 HGNC:7609 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 1.2304 True ENSG00000187556 ENSG00000187556 HGNC:22048 NAV2 gene NAV2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Developmental delay;cerebellar hypoplasia;cerebellar dysplasia PMID:35218524 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000146918 ENSG00000146918 HGNC:21904 NDNF gene NDNF Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 31883645 False 2 50;50;0 1.2304 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 1.2304 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 1.2304 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFB7 gene NDUFB7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135;Congenital lactic acidosis;hypertrophic cardiomyopathy 33502047;27626371 False 2 0;100;0 1.2304 True ENSG00000099795 ENSG00000099795 HGNC:7702 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000117650 ENSG00000117650 HGNC:7745 NEK9 gene NEK9 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 10, MIM# 617022;Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262;Skeletal dysplasia 26908619;21271645 False 2 0;100;0 1.2304 True ENSG00000119638 ENSG00000119638 HGNC:18591 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 1.2304 True ENSG00000102908 ENSG00000102908 HGNC:7774 NFATC1 gene NFATC1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, NFATC1-related;Combined Immune deficiency 37249233 False 2 0;100;0 1.2304 True ENSG00000131196 ENSG00000131196 HGNC:7775 NFATC2 gene NFATC2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Skeletal system disorder MONDO:0005172;Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related 35789258;38427060 False 2 0;33;67 1.2304 True ENSG00000101096 ENSG00000101096 HGNC:7776 NME5 gene NME5 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 32185794 False 2 0;100;0 1.2304 True ENSG00000112981 ENSG00000112981 HGNC:7853 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 1.2304 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 1.2304 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 1.2304 True ENSG00000182117 ENSG00000182117 HGNC:14378 NPPA gene NPPA Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 6, (MIM#612201) 18614783;20064500;31034774;31077706 False 2 0;100;0 1.2304 True ENSG00000175206 ENSG00000175206 HGNC:7939 NRG1 gene NRG1 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease, MONDO:0018309;Peripheral neuropathy MONDO:0005244 22574178;21706185;28190554 False 2 0;50;50 1.2304 True ENSG00000157168 ENSG00000157168 HGNC:7997 NSF gene NSF Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 96, MIM# 619340;Seizures;EEG with burst suppression;Global developmental delay;Intellectual disability 31675180 False 2 0;100;0 1.2304 True ENSG00000073969 ENSG00000073969 HGNC:8016 NSMCE2 gene NSMCE2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal SECKEL SYNDROME 10 25105364 False 2 0;100;0 1.2304 True ENSG00000156831 ENSG00000156831 HGNC:26513 NSMCE3 gene NSMCE3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 27427983 False 2 0;100;0 1.2304 True ENSG00000185115 ENSG00000185115 HGNC:7677 NSUN3 gene NSUN3 Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 48, MIM# 619012 27356879;32488845 False 2 0;100;0 1.2304 True ENSG00000178694 ENSG00000178694 HGNC:26208 NUAK2 gene NUAK2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Anencephaly 2, MIM# 619452 32845958 False 2 0;100;0 1.2304 True ENSG00000163545 ENSG00000163545 HGNC:29558 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 1.2304 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 1.2304 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 1.2304 True ENSG00000213024 ENSG00000213024 HGNC:8066 NYNRIN gene NYNRIN Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Wilms tumour predisposition PMID: 30885698 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000178814 ENSG00000178814 HGNC:8149 OPN1LW gene OPN1LW Expert Review Amber;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Blue cone monochromacy - MIM#303700;Colourblindness, protan - MIM#303900 25168334;32860923 False 2 0;100;0 1.2304 True ENSG00000102076 ENSG00000102076 HGNC:9936 OPN1MW gene OPN1MW Expert Review Amber;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Blue cone monochromacy - MIM#303700;Colourblindness, deutan - MIM#303800 25168334;32860923 False 2 0;100;0 1.2304 True ENSG00000147380 ENSG00000268221 HGNC:4206 OTUD7A gene OTUD7A Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 31997314;29395075;29395074;33381903 False 2 0;100;0 1.2304 True ENSG00000169918 ENSG00000169918 HGNC:20718 OXA1L gene OXA1L Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Encephalopathy;hypotonia;developmental delay 30201738;16435202 False 2 0;100;0 1.2304 True ENSG00000155463 ENSG00000155463 HGNC:8526 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 1.2304 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 1.2304 True ENSG00000182162 ENSG00000182162 HGNC:15524 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related 38637313 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000100889 ENSG00000100889 HGNC:8725 PCLO gene PCLO Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 3, MIM#608027 25832664 False 2 0;100;0 1.2304 True ENSG00000186472 ENSG00000186472 HGNC:13406 PDCD6IP gene PDCD6IP Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Microcephaly 29, primary, autosomal recessive, MIM# 620047;Microcephaly;intellectual disability 32286682 False 2 0;100;0 1.2304 True ENSG00000170248 ENSG00000170248 HGNC:8766 PDCL3 gene PDCL3 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon 32621347 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000185527 ENSG00000185527 HGNC:8789 PDIA6 gene PDIA6 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes False 2 0;100;0 1.2304 True ENSG00000143870 ENSG00000143870 HGNC:30168 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 1.2304 True ENSG00000101856 ENSG00000101856 HGNC:16090 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 1.2304 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 1.2304 True ENSG00000019144 ENSG00000019144 HGNC:23697 PIGM gene PIGM Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal "Glycosylphosphatidylinositol deficiency, MIM# 610293;portal vein thrombosis;persistent absence seizures;macrocephaly;infantile-onset cerebrovascular thrombotic events" 31445883;16767100 False 2 0;100;0 1.2304 True ENSG00000143315 ENSG00000143315 HGNC:18858 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 1.2304 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 1.2304 True ENSG00000133056 ENSG00000133056 HGNC:8972 PJA1 gene PJA1 Expert Review Amber;Literature Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability;trigonocephaly 32530565 False 2 0;100;0 1.2304 True ENSG00000181191 ENSG00000181191 HGNC:16648 PLCG1 gene PLCG1 Expert Review;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 37422272 False 2 0;100;0 1.2304 True Other ENSG00000124181 ENSG00000124181 HGNC:9065 PLCH1 gene PLCH1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Holoprosencephaly 14, MIM# 619895 33820834 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000052126 ENSG00000052126 HGNC:30036 PLEKHA7 gene PLEKHA7 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft lip and palate 29805042 False 2 0;100;0 1.2304 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 False 2 0;100;0 1.2304 True ENSG00000090924 ENSG00000090924 HGNC:29515 PLEKHM2 gene PLEKHM2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy MONDO:0005021 35862026;26464484;38942823;38490981;37349842 False 2 0;100;0 1.2304 True ENSG00000116786 ENSG00000116786 HGNC:29131 PLIN1 gene PLIN1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, type 4, MIM# 613877 21345103;31504636;30020498;25114292 False 2 0;100;0 1.2304 True ENSG00000166819 ENSG00000166819 HGNC:9076 PLXNA2 gene PLXNA2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Abnormality of the face;Failure to thrive;Abnormal heart morphology 34327814 False 2 0;100;0 1.2304 True ENSG00000076356 ENSG00000076356 HGNC:9100 PMEPA1 gene PMEPA1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary disorder of connective tissue, MONDO:0023603, PMEPA1-related PMID: 36928819 False 2 0;100;0 1.2304 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000124225 ENSG00000124225 HGNC:14107 PMP2 gene PMP2 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Charcot-Marie-Tooth disease, demyelinating, type 1G MIM#618279" 26257172;26828946;27009151 False 2 50;50;0 1.2304 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000147588 ENSG00000147588 HGNC:9117 PNLIP gene PNLIP Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Pancreatic lipase deficiency MIM#614338;disorders of lipid and lipoprotein metabolism 31977950;25862608;24262094;27604308 False 2 100;0;0 1.2304 True ENSG00000175535 ENSG00000175535 HGNC:9155 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 1.2304 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 1.2304 True ENSG00000106628 ENSG00000106628 HGNC:9176 POLR2C gene POLR2C Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency 34794894;29367954 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000121851 ENSG00000121851 HGNC:28466 POLR3H gene POLR3H Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency 34794894;30830215 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000110777 ENSG00000110777 HGNC:9211 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 1.2304 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 1.2304 True ENSG00000163644 ENSG00000163644 HGNC:25415 PPP1R15B gene PPP1R15B Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 26159176;26307080;27640355 False 2 0;100;0 1.2304 True ENSG00000158615 ENSG00000158615 HGNC:14951 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 1.2304 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 False 2 0;100;0 1.2304 True ENSG00000011485 ENSG00000011485 HGNC:9322 PRDM15 gene PRDM15 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Steroid resistant nephrotic syndrome;Holoprosencephaly 31950080 False 2 0;100;0 1.2304 True ENSG00000141956 ENSG00000141956 HGNC:13999 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 1.2304 True ENSG00000163637 ENSG00000163637 HGNC:20340 PRKAG3 gene PRKAG3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown increased glycogen content in skeletal muscle 17878938;10818001 False 2 0;100;0 1.2304 True ENSG00000115592 ENSG00000115592 HGNC:9387 PRPF6 gene PRPF6 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 60, MIM# 613983 21549338;32335390 False 2 0;100;0 1.2304 True ENSG00000101161 ENSG00000101161 HGNC:15860 PRPH gene PRPH Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Amyotrophic lateral sclerosis, susceptibility to}, 105400 20363051;15322088;15446584 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000100567 ENSG00000100567 HGNC:9532 PSMB1 gene PSMB1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Intellectual disability;microcephaly 32129449 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000159377 ENSG00000159377 HGNC:9541 PTGS1 gene PTGS1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Platelet dysfunction;bleeding 32299908;11442478;27629384;8562397 False 2 0;100;0 1.2304 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 36073231;37448355 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000163629 ENSG00000163629 HGNC:9646 PTPN2 gene PTPN2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lupus;arthritis;common variable immunodeficiency 32499645;27658548 False 2 0;100;0 1.2304 True ENSG00000175354 ENSG00000175354 HGNC:9650 PTPRJ gene PTPRJ Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia 10, MIM# 620484 30591527 False 2 0;100;0 1.2304 True ENSG00000149177 ENSG00000149177 HGNC:9673 RAB14 gene RAB14 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorders 33057194 False 2 0;100;0 1.2304 True ENSG00000119396 ENSG00000119396 HGNC:16524 RAB1A gene RAB1A Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, RAB1A-related 37924809 False 2 0;100;0 1.2304 True ENSG00000138069 ENSG00000138069 HGNC:9758 RAB32 gene RAB32 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923 38614108;38858457 False 2 0;50;50 1.2304 True Other ENSG00000118508 ENSG00000118508 HGNC:9772 RAMP2 gene RAMP2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary open angle glaucoma 31000793 False 2 0;100;0 1.2304 True ENSG00000131477 ENSG00000131477 HGNC:9844 RAP1A gene RAP1A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 26280580 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000131759 ENSG00000131759 HGNC:9864 RASA2 gene RASA2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 2 0;100;0 1.2304 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 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000106344 ENSG00000106344 HGNC:21863 RBM7 gene RBM7 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal SMA-like spinal motor neuropathy;dHMN/dSMA 27193168 False 2 0;100;0 1.2304 True ENSG00000076053 ENSG00000076053 HGNC:9904 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 25256757;34260915;37277488 False 2 0;100;0 1.2304 True ENSG00000147274 ENSG00000147274 HGNC:9910 RC3H1 gene RC3H1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Relapsing HLH;Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998" 31636267 False 2 0;100;0 1.2304 True ENSG00000135870 ENSG00000135870 HGNC:29434 RCAN1 gene RCAN1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FSGS;proteinuria 33863784 False 2 0;100;0 1.2304 True ENSG00000159200 ENSG00000159200 HGNC:3040 RDH11 gene RDH11 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108 24916380;15634683;30731079;18326732 False 2 0;100;0 1.2304 True ENSG00000072042 ENSG00000072042 HGNC:17964 REC8 gene REC8 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency 34794894;15515002;34707299 False 2 0;100;0 1.2304 True ENSG00000100918 ENSG00000100918 HGNC:16879 RECQL gene RECQL Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Photosensitivity;facial dysmorphism;xeropthalmia;skeletal abnormalities PMID: 35025765 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000007384 ENSG00000007384 HGNC:20561 RHOB gene RHOB Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral Palsy 32989326 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000135828 ENSG00000135828 HGNC:10050 RNF2 gene RNF2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lou-Schoch-Yamamoto syndrome , MIM#619460;epilepsy;intellectual disability;intrauterine growth retardation 33864376 False 2 0;100;0 1.2304 True ENSG00000121481 ENSG00000121481 HGNC:10061 RNF212B gene RNF212B Expert Review Amber;Other Mendeliome BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047 37124137 False 2 0;100;0 1.2304 True ENSG00000215277 ENSG00000215277 HGNC:20438 RNF31 gene RNF31 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 115 with autoinflammation, MIM# 620632 26008899;30936877 False 2 0;100;0 1.2304 True ENSG00000092098 ENSG00000092098 HGNC:16031 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 False 2 50;50;0 1.2304 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 1.2304 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 1.2304 True ENSG00000185483 ENSG00000185483 HGNC:10256 RPL10L gene RPL10L Expert Review Amber;Literature Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal MONDO_0004983, oligo-/azoospermia PMID:32111475 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000063177 ENSG00000063177 HGNC:10310 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 1.2304 True ENSG00000071082 ENSG00000071082 HGNC:10334 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 1.2304 True ENSG00000161016 ENSG00000161016 HGNC:10368 RPL9 gene RPL9 Expert list;Expert Review Amber Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia 29114930;20116044;31799629 False 2 0;50;50 1.2304 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 1.2304 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 1.2304 True ENSG00000186468 ENSG00000186468 HGNC:10410 RPS28 gene RPS28 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 24942156 False 2 0;100;0 1.2304 True ENSG00000233927 ENSG00000233927 HGNC:10418 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 1.2304 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 1.2304 True ENSG00000108443 ENSG00000108443 HGNC:10436 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 1.2304 True ENSG00000126458 ENSG00000126458 HGNC:10447 RREB1 gene RREB1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rasopathy, MONDO:0021060, RREB1-related 32938917;38332451 False 2 0;100;0 1.2304 True ENSG00000124782 ENSG00000124782 HGNC:10449 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 1.2304 True ENSG00000167325 ENSG00000167325 HGNC:10451 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 1.2304 True ENSG00000189306 ENSG00000189306 HGNC:24286 RSPRY1 gene RSPRY1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 26365341 False 2 0;100;0 1.2304 True ENSG00000159579 ENSG00000159579 HGNC:29420 RUSC2 gene RUSC2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 61, MIM# 617773" 27612186 False 2 0;100;0 1.2304 True ENSG00000198853 ENSG00000198853 HGNC:23625 RYR3 gene RYR3 Expert list;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy 20, MIM# 620310;developmental and epileptic encephalopathy (MONDO:0100062) 29498452;32451403;31230720;25262651 False 2 0;100;0 1.2304 True ENSG00000198838 ENSG00000198838 HGNC:10485 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 1.2304 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 1.2304 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 1.2304 True ENSG00000079689 ENSG00000079689 HGNC:16941 SCP2 gene SCP2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724 16685654;26497993 False 2 0;50;50 1.2304 True ENSG00000116171 ENSG00000116171 HGNC:10606 SCYL2 gene SCYL2 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita (AMC);Zain syndrome 31960134;26203146 False 2 0;100;0 1.2304 True ENSG00000136021 ENSG00000136021 HGNC:19286 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 1.2304 True ENSG00000120341 ENSG00000120341 HGNC:30301 SEC23A gene SEC23A Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Craniolenticulosutural dysplasia (MIM# 607812) 16980979;21039434;16980978;27148587 False 2 0;100;0 1.2304 True ENSG00000100934 ENSG00000100934 HGNC:10701 SEC31A gene SEC31A Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651;congenital neurodevelopmental syndrome;spastic paraplegia;multiple contractures;profound developmental delay;epilepsy;failure to thrive" PMID: 30464055 False 2 0;100;0 1.2304 True ENSG00000138674 ENSG00000138674 HGNC:17052 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 1.2304 True ENSG00000106803 ENSG00000106803 HGNC:16993 SELENOI gene SELENOI Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal developmental delay;spasticity;periventricular white mater abnormalities;peripheral neuropathy;seizures;bifid uvula in some affected individuals;microcephaly 28052917 False 2 0;100;0 1.2304 True ENSG00000138018 ENSG00000138018 HGNC:29361 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000138771 ENSG00000138771 HGNC:30422 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 1.2304 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 1.2304 True ENSG00000105738 ENSG00000105738 HGNC:23801 SIX5 gene SIX5 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, MIM# 610896 17357085;33624842;20301554;24730701;22447252;21280147;14704431;11950062;10802667;10802668 False 2 0;100;0 1.2304 True ENSG00000177045 ENSG00000177045 HGNC:10891 SLC13A1 gene SLC13A1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal sulfation-related bone disorder MONDO:0019688, SLC13A1-related 36175384 False 2 0;50;50 1.2304 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 32276275 False 2 0;50;50 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000170615 ENSG00000170615 HGNC:9359 SLC30A5 gene SLC30A5 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Perinatal lethal cardiomyopathy 33547425;12095919 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000162695 ENSG00000162695 HGNC:19306 SLC31A1 gene SLC31A1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodegeneration and seizures due to copper transport defect, MIM# 620306 PMID: 35913762;36562171 False 2 0;50;50 1.2304 True ENSG00000136868 ENSG00000136868 HGNC:11016 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 1.2304 True ENSG00000157593 ENSG00000157593 HGNC:16872 SLC35F1 gene SLC35F1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated;Rett-like syndrome 33821533 False 2 0;50;50 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000132517 ENSG00000132517 HGNC:30225 SLC6A17 gene SLC6A17 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 48, MIM# 616269 25704603;23672601 False 2 0;100;0 1.2304 True ENSG00000197106 ENSG00000197106 HGNC:31399 SLC6A6 gene SLC6A6 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350;Early retinal degeneration;cardiomyopathy 31345061;31903486;29886034 False 2 0;100;0 1.2304 True ENSG00000131389 ENSG00000131389 HGNC:11052 SLC9A1 gene SLC9A1 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Lichtenstein-Knorr syndrome, MIM# 616291 25205112;30018422;25760855 False 2 0;100;0 1.2304 True ENSG00000090020 ENSG00000090020 HGNC:11071 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 1.2304 True ENSG00000065923 ENSG00000065923 HGNC:17123 SLIT2 gene SLIT2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 26026792;15130495 False 2 0;100;0 1.2304 True ENSG00000145147 ENSG00000145147 HGNC:11086 SLIT3 gene SLIT3 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Congenital diaphragmatic hernia 33933663 False 2 0;100;0 1.2304 True ENSG00000184347 ENSG00000184347 HGNC:11087 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 1.2304 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 1.2304 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 1.2304 True ENSG00000163877 ENSG00000163877 HGNC:30587 SOX3 gene SOX3 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123;Panhypopituitarism, X-linked, MIM#312000;XX male sex reversal 29175558;30125608;12428212;15800844 False 2 0;100;0 1.2304 True ENSG00000134595 ENSG00000134595 HGNC:11199 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 1.2304 True ENSG00000182957 ENSG00000182957 HGNC:23222 SPATA16 gene SPATA16 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 6 MIM#102530;Spermatogenic failure 6 MONDO:0007060 17847006;27086357;29065458 False 2 0;100;0 1.2304 True ENSG00000144962 ENSG00000144962 HGNC:29935 SPATA22 gene SPATA22 Expert Review;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 96, MIM#621001;Premature ovarian failure 25, MIM#621002 35285020 False 2 0;100;0 1.2304 True ENSG00000141255 ENSG00000141255 HGNC:30705 SPATC1L gene SPATC1L Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Deafness 30177775 False 2 0;100;0 1.2304 True ENSG00000160284 ENSG00000160284 HGNC:1298 SPIDR gene SPIDR Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 9, MIM# 619665 34794894;34697795;27967308 False 2 0;100;0 1.2304 True ENSG00000164808 ENSG00000164808 HGNC:28971 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 1.2304 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 1.2304 True ENSG00000183018 ENSG00000183018 HGNC:26992 SPPL2A gene SPPL2A Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 86, MIM#619549;Susceptibility to mycobacteria and Salmonella 30127434 False 2 0;100;0 1.2304 True ENSG00000138600 ENSG00000138600 HGNC:30227 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 1.2304 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 False 2 0;100;0 1.2304 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 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000137767 ENSG00000137767 HGNC:20390 SREBF2 gene SREBF2 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurocutaneous syndrome, MONDO:0042983, SREBF2-related 38847193 False 2 0;100;0 1.2304 True ENSG00000198911 ENSG00000198911 HGNC:11290 SRGAP1 gene SRGAP1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 26026792 False 2 0;0;0 1.2304 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 1.2304 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 1.2304 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 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000114850 ENSG00000114850 HGNC:11325 STX4 gene STX4 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 123, MIM# 620745" 36355422 False 2 0;50;50 1.2304 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 1.2304 True ENSG00000162236 ENSG00000162236 HGNC:11440 SUCO gene SUCO Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta 29620724;20440000 False 2 0;100;0 1.2304 True ENSG00000094975 ENSG00000094975 HGNC:1240 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 1.2304 True ENSG00000175600 ENSG00000175600 HGNC:16001 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 1.2304 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 1.2304 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 1.2304 True ENSG00000139351 ENSG00000139351 HGNC:18130 TAF13 gene TAF13 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 60, MIM# 617432 28257693 False 2 0;100;0 1.2304 True ENSG00000197780 ENSG00000197780 HGNC:11546 TAF1C gene TAF1C Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), TAF1C-related 32779182 False 2 0;100;0 1.2304 True ENSG00000103168 ENSG00000103168 HGNC:11534 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 1.2304 True ENSG00000231925 ENSG00000231925 HGNC:11566 TAPT1 gene TAPT1 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) 26365339;36697720;36652330 False 2 0;100;0 1.2304 True ENSG00000169762 ENSG00000169762 HGNC:26887 TARS gene TARS Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 7, nonphotosensitive;OMIM #618546 31374204 False 2 0;100;0 1.2304 True ENSG00000113407 ENSG00000113407 HGNC:11572 TBX2 gene TBX2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223 29726930;23727221;20635360;30223900 False 2 0;100;0 1.2304 True ENSG00000121068 ENSG00000121068 HGNC:11597 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 1.2304 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 1.2304 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 1.2304 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 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000187079 ENSG00000187079 HGNC:11714 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 1.2304 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 1.2304 True ENSG00000167014 ENSG00000167014 HGNC:28520 TFRC gene TFRC Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 46, MIM# 616740;T cells: normal number, poor proliferation;B cells: normal number, low memory B cells;recurrent infections, neutorpaenia;thrombocytopaenia 26642240 False 2 0;100;0 1.2304 True ENSG00000072274 ENSG00000072274 HGNC:11763 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 1.2304 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 1.2304 True ENSG00000186340 ENSG00000186340 HGNC:11786 THOC1 gene THOC1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic hearing loss 32776944 False 2 0;100;0 1.2304 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 1.2304 True ENSG00000116001 ENSG00000116001 HGNC:11802 TIMM22 gene TIMM22 Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal mitochondrial myopathy;hypotonia;gastroesophageal reflux disease 30452684 False 2 0;100;0 1.2304 True ENSG00000177370 ENSG00000177370 HGNC:17317 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 1.2304 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 1.2304 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 False 2 0;67;33 1.2304 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 1.2304 True ENSG00000181291 ENSG00000181291 HGNC:26991 TMEM251 gene TMEM251 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Dysostosis multiplex, Ain-Naz type 619345 33252156 False 2 0;100;0 1.2304 True ENSG00000153485 ENSG00000153485 HGNC:20218 TMEM65 gene TMEM65 Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy 28295037 False 2 0;100;0 1.2304 True ENSG00000164983 ENSG00000164983 HGNC:25203 TMTC2 gene TMTC2 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 122, MIM# 620714 29671961;27311106;37943620;30188326 False 2 0;100;0 1.2304 True ENSG00000179104 ENSG00000179104 HGNC:25440 TNC gene TNC Expert Review Amber;Victorian Clinical Genetics Services Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 56, MIM# 615629 23936043;34093110;33763067 False 2 0;100;0 1.2304 True ENSG00000041982 ENSG00000041982 HGNC:5318 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 1.2304 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 1.2304 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 1.2304 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;100;0 1.2304 True ENSG00000159173 ENSG00000159173 HGNC:11945 TOMM7 gene TOMM7 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, MIM# 620601 36299998;36282599 False 2 0;100;0 1.2304 True ENSG00000196683 ENSG00000196683 HGNC:21648 TOMM70 gene TOMM70 Expert list;Expert Review Amber Mendeliome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Severe anaemia, lactic acidosis, developmental delay;White matter abnormalities, developmental delay, regression, movement disorder 31907385;32356556 False 2 0;100;0 1.2304 True ENSG00000154174 ENSG00000154174 HGNC:11985 TRAC gene TRAC Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 21206088 False 2 100;0;0 1.2304 True ENSG00000229164 ENSG00000277734 HGNC:12029 TRAF3IP2 gene TRAF3IP2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 8, MIM# 615527 24120361;31292894;20660351 False 2 0;100;0 1.2304 True ENSG00000056972 ENSG00000056972 HGNC:1343 TRAPPC2L gene TRAPPC2L Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 30120216;32843486 False 2 0;100;0 1.2304 True ENSG00000167515 ENSG00000167515 HGNC:30887 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 1.2304 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 1.2304 True Other ENSG00000138741 ENSG00000138741 HGNC:12335 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 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000114999 ENSG00000114999 HGNC:21586 TUB gene TUB Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy and obesity, MIM# 616188 24375934;28852204 False 2 0;100;0 1.2304 True ENSG00000166402 ENSG00000166402 HGNC:12406 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 1.2304 True ENSG00000183785 ENSG00000183785 HGNC:12410 TUFT1 gene TUFT1 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Woolly hair-skin fragility syndrome, MIM# 620415 36689522 False 2 0;100;0 1.2304 True ENSG00000143367 ENSG00000143367 HGNC:12422 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 1.2304 True ENSG00000100348 ENSG00000100348 HGNC:17772 TXNRD2 gene TXNRD2 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 5 (GCCD5), MIM#617825;MONDO:0040502 24601690;21247928;34258490 False 2 0;100;0 1.2304 True ENSG00000184470 ENSG00000184470 HGNC:18155 TYMS gene TYMS Expert Review Amber;Literature Mendeliome Other Dyskeratosis congenita, digenic, MIM#620040 35931051 False 2 0;50;50 1.2304 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 1.2304 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 1.2304 True ENSG00000175567 ENSG00000175567 HGNC:12518 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 False 2 50;50;0 1.2304 True ENSG00000109103 ENSG00000109103 HGNC:12565 UNC50 gene UNC50 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 29016857;33820833 False 2 0;100;0 1.2304 True ENSG00000115446 ENSG00000115446 HGNC:16046 UPF1 gene UPF1 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorders 33057194 False 2 0;100;0 1.2304 True ENSG00000005007 ENSG00000005007 HGNC:9962 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 False 2 0;100;0 1.2304 True ENSG00000173915 ENSG00000173915 HGNC:30889 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 1.2304 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 1.2304 True ENSG00000155975 ENSG00000155975 HGNC:24928 VPS51 gene VPS51 Expert list;Expert Review Amber Mendeliome BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 13, MIM# 618606" 30624672;31207318 False 2 0;100;0 1.2304 True ENSG00000149823 ENSG00000149823 HGNC:1172 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 1.2304 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 1.2304 True ENSG00000100987 ENSG00000100987 HGNC:12723 VWA8 gene VWA8 Expert Review Amber;Literature Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 97, MIM#620422 PMID: 37012052 False 2 0;100;0 1.2304 True ENSG00000102763 ENSG00000102763 HGNC:29071 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 1.2304 True ENSG00000132471 ENSG00000132471 HGNC:12738 WDR91 gene WDR91 Expert Review Amber;Victorian Clinical Genetics Services Mendeliome BIALLELIC, autosomal or pseudoautosomal Hydrocephalus;cerebellar hypoplasia;hygroma 34028500;28860274;32732226;28969387 False 2 0;50;50 1.2304 True ENSG00000105875 ENSG00000105875 HGNC:24997 WNT4 gene WNT4 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 False 2 0;100;0 1.2304 True ENSG00000162552 ENSG00000162552 HGNC:12783 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 1.2304 True ENSG00000158955 ENSG00000158955 HGNC:12779 WRAP73 gene WRAP73 Expert Review Amber;Literature Mendeliome BIALLELIC, autosomal or pseudoautosomal Microsperophakia 33693649 False 2 0;100;0 1.2304 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 1.2304 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 1.2304 True ENSG00000106636 ENSG00000106636 HGNC:16959 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS Mendeliome BIALLELIC, autosomal or pseudoautosomal Optic atrophy 11, MIM#617302 30544562;27495975 False 2 0;100;0 1.2304 True ENSG00000136758 ENSG00000136758 HGNC:12843 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 1.2304 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 1.2304 True ENSG00000179627 ENSG00000179627 HGNC:32550 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 1.2304 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 1.2304 True ENSG00000171307 ENSG00000171307 HGNC:20714 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 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 1.2304 True ENSG00000167394 ENSG00000167394 HGNC:25821 FRA12A str DIP2B Expert Review Amber;Other Mendeliome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant, FRA12A type MIM#136630 17236128 False 2 0;100;0 1.2304 True ENSG00000066084 ENSG00000066084 HGNC:29284 12 50898787 50898807 50505004 50505024 CGG 23 280