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 A2M gene A2M Expert Review Green Test MOI validation panel - do not edit MoNOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Allowed values MOI test - gene with non-standard MOI False 3 0;0;0 0.99 False ENSG00000175899 ENSG00000175899 HGNC:7 A2ML1 gene A2ML1 Expert Review Green Test MOI validation panel - do not edit Unknown Allowed values MOI test - gene with 'unknown' MOI False 3 0;0;0 0.99 False ENSG00000166535 ENSG00000166535 HGNC:23336 A4GALT gene A4GALT Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Test MOI validation panel - do not edit Other Allowed values MOI test - gene with 'other' MOI uploaded from file False 3 0;0;0 0.99 True ENSG00000128274 ENSG00000128274 HGNC:18149 AAAS gene AAAS Expert Review Green;Literature Test MOI validation panel - do not edit Other Allowed values MOI test - gene with 'other' MOI selected through web interface False 3 0;0;0 0.99 False ENSG00000094914 ENSG00000094914 HGNC:13666 ABO gene ABO Expert Review Green;Literature Test MOI validation panel - do not edit MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OMIM test - monoallelic but associated with disorder with no inheritance given in OMIM False 3 0;0;0 0.99 False ENSG00000175164 ENSG00000175164 HGNC:79 ACAN gene ACAN Expert Review Green;Literature Test MOI validation panel - do not edit BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 3 0;0;0 0.99 False ENSG00000157766 ENSG00000157766 HGNC:319 ALMS1 gene ALMS1 Expert Review Green;Literature Test MOI validation panel - do not edit BOTH monoallelic and biallelic, autosomal or pseudoautosomal OMIM test - MOI is Both mono and bialllelic and OMIM has only AR False 3 0;0;0 0.99 False ENSG00000116127 ENSG00000116127 HGNC:428 BMP6 gene BMP6 Expert Review Green;Other Test MOI validation panel - do not edit BIALLELIC, autosomal or pseudoautosomal No phenotype in OMIM and no tag False 3 0;0;0 0.99 False ENSG00000153162 ENSG00000153162 HGNC:1073 CACNA1A gene CACNA1A Expert Review Green;Literature Test MOI validation panel - do not edit BIALLELIC, autosomal or pseudoautosomal OMIM test - is biallelic but AD in OMIM False 3 0;0;0 0.99 False ENSG00000141837 ENSG00000141837 HGNC:1388 CAMK4 gene CAMK4 Expert Review Green;Other Test MOI validation panel - do not edit BIALLELIC, autosomal or pseudoautosomal No phenotype in OMIM but has tag to say checked False 3 0;0;0 0.99 False ENSG00000152495 ENSG00000152495 HGNC:1464 CCDC47 gene CCDC47 Expert Review Green;Literature Test MOI validation panel - do not edit BIALLELIC, autosomal or pseudoautosomal OMIM test - has no OMIM gene ID in PanelApp False 3 0;0;0 0.99 False ENSG00000108588 ENSG00000108588 HGNC:24856 EBP gene EBP Expert Review Green;Literature Test MOI validation panel - do not edit X-LINKED: hemizygous mutation in males, biallelic mutations in females OMIM test - XLR but OMIM has XLD, XLR False 3 0;0;0 0.99 False ENSG00000147155 ENSG00000147155 HGNC:3133 EZH2 gene EZH2 Expert Review Green;Literature Test MOI validation panel - do not edit MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Across panel tests - imprinting different False 3 0;0;0 0.99 False ENSG00000106462 ENSG00000106462 HGNC:3527 GH1 gene GH1 Expert Review Green;Literature Test MOI validation panel - do not edit MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) OMIM test - is monoallelic but both AR, AD in OMIM False 3 0;0;0 0.99 False ENSG00000259384 ENSG00000259384 HGNC:4261 HCN1 gene HCN1 Expert Review Green;Literature Test MOI validation panel - do not edit MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Across panel test - monoallelic on all panels False 3 0;0;0 0.99 False ENSG00000164588 ENSG00000164588 HGNC:4845 IL18BP gene IL18BP Expert Review Green;Literature Test MOI validation panel - do not edit MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OMIM test - MOI is monoalllelic but AR in OMIM False 3 0;0;0 0.99 False ENSG00000137496 ENSG00000137496 HGNC:5987 KDM6A gene KDM6A Expert Review Green;Literature Test MOI validation panel - do not edit X-LINKED: hemizygous mutation in males, biallelic mutations in females OMIM test - MOI is X-linked biallelic, but OMIM has XLD False 3 0;0;0 0.99 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIR2DL2 gene KIR2DL2 Expert Review Green;Literature Test MOI validation panel - do not edit Unknown Gene with no Ensembl ID for GRCh38 (release 90) False 3 100;0;0 0.99 False ENSG00000215764 - MT-CYB gene MT-CYB Expert Review Green;Literature Test MOI validation panel - do not edit BIALLELIC, autosomal or pseudoautosomal Allowed values test - gene on MT genome but doesn't have MITOCHONDRIAL MOI False 3 0;0;0 0.99 False ENSG00000198727 ENSG00000198727 HGNC:7427 NDUFA1 gene NDUFA1 Expert Review Green;Literature Test MOI validation panel - do not edit X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OMIM test - MOI is X-linked monoallelic, but OMIM has XLR False 3 0;0;0 0.99 False ENSG00000125356 ENSG00000125356 HGNC:7683 OFD1 gene OFD1 Expert Review Green;Literature Test MOI validation panel - do not edit X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OMIM test - MOI is X-linked monoallelic but is XLD,XLR in OMIM False 3 0;0;0 0.99 False ENSG00000046651 ENSG00000046651 HGNC:2567 PKD1 gene PKD1 Expert Review Green;Literature Test MOI validation panel - do not edit BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal OMIM test - MOI is Both mono and biallelic and OMIM only AD;Across panel tests False 3 0;0;0 0.99 False ENSG00000008710 ENSG00000008710 HGNC:9008 PRSS1 gene PRSS1 Expert Review Green;Literature Test MOI validation panel - do not edit MITOCHONDRIAL Allowed values MOI test - gene on chr 7 but has mitochondrial MOI False 3 0;0;0 0.99 False ENSG00000204983 ENSG00000204983 HGNC:9475 SHD gene SHD Expert Review Green;Literature Test MOI validation panel - do not edit MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) OMIM test - MOI is Monallelic, maternally imprinted, but OMIM has no MOI False 3 0;0;0 0.99 False ENSG00000105251 ENSG00000105251 HGNC:30633 SHOX gene SHOX Expert Review Green;Literature Test MOI validation panel - do not edit BOTH monoallelic and biallelic, autosomal or pseudoautosomal Allowed values MOI test - gene on chr X but in pseudoautosomal region so can have different MOI;Across panels tests False 3 0;0;0 0.99 False ENSG00000185960 ENSG00000185960 HGNC:10853 SLC25A1 gene SLC25A1 Expert Review Green Test MOI validation panel - do not edit Allowed values MOI test - gene with no MOI set False 3 0;0;0 0.99 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC35A2 gene SLC35A2 Expert Review Green;Literature Test MOI validation panel - do not edit X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OMIM test - X-linked monoallelic MOI but SMo, XLD in OMIM False 3 0;0;0 0.99 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC5A7 gene SLC5A7 Expert Review Green;Literature Test MOI validation panel - do not edit MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Across panel tests False 3 0;0;0 0.99 False ENSG00000115665 ENSG00000115665 HGNC:14025 SPG7 gene SPG7 Expert Review Green;Literature Test MOI validation panel - do not edit BIALLELIC, autosomal or pseudoautosomal OMIM test - is bialllelic but OMIM has AD, AR False 3 0;0;0 0.99 False ENSG00000197912 ENSG00000197912 HGNC:11237 SRY gene SRY Expert Review Green;Literature Test MOI validation panel - do not edit Other Allowed values test - gene on chr Y and is allowed 'other' as MOI False 3 0;0;0 0.99 False ENSG00000184895 ENSG00000184895 HGNC:11311 TREM2 gene TREM2 Expert Review Green;Literature Test MOI validation panel - do not edit BIALLELIC, autosomal or pseudoautosomal OMIM test - biallelic on panel and AR in OMIM - do not report False 3 0;0;0 0.99 False ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Expert Review Green;Literature Test MOI validation panel - do not edit BOTH monoallelic and biallelic, autosomal or pseudoautosomal OMIM test - MOI is Both Bi and mono, AD, AR in OMIM - agree False 3 0;0;0 0.99 False ENSG00000213689 ENSG00000213689 HGNC:12269 WNT5A gene WNT5A Expert Review Green;Literature Test MOI validation panel - do not edit X-LINKED: hemizygous mutation in males, biallelic mutations in females Allowed values MOI test - gene on chr 3 but has an X-chromosome MOI;Across panels tests False 3 0;0;0 0.99 False ENSG00000114251 ENSG00000114251 HGNC:12784 ZFY gene ZFY Expert Review Green;Literature Test MOI validation panel - do not edit BIALLELIC, autosomal or pseudoautosomal Allowed values test - gene on chr Y but does not have 'other' as the MOI False 3 0;0;0 0.99 False ENSG00000067646 ENSG00000067646 HGNC:12870 ZIC3 gene ZIC3 Expert Review Green;Literature Test MOI validation panel - do not edit BIALLELIC, autosomal or pseudoautosomal Allowed values MOI test - gene on X chromosome but not X-chromosome MOI False 3 0;0;0 0.99 False ENSG00000156925 ENSG00000156925 HGNC:12874