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 ABHD5 gene ABHD5 Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome 275630 False 1 0;0;100 9.32 False ENSG00000011198 ENSG00000011198 HGNC:21396 ACADM gene ACADM Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADVL gene ACADVL Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000072778 ENSG00000072778 HGNC:92 ADSL gene ADSL Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 9.32 False ENSG00000239900 ENSG00000239900 HGNC:291 AGL gene AGL Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000162688 ENSG00000162688 HGNC:321 AIMP1 gene AIMP1 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000164022 ENSG00000164022 HGNC:10648 ALG14 gene ALG14 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 Emory Genetics Laboratory;Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 False 1 0;0;100 9.32 False ENSG00000119523 ENSG00000119523 HGNC:23159 ANO5 gene ANO5 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Gnathodiaphyseal dysplasia, 166260;Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319;Limb-Girdle Muscular Dystrophy, Recessive False 1 0;0;100 9.32 False ENSG00000171714 ENSG00000171714 HGNC:27337 ANXA3 gene ANXA3 Literature Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown unknown equinus deformity 27475959 False 1 0;0;100 9.32 False ENSG00000138772 ENSG00000138772 HGNC:541 ATP2A1 gene ATP2A1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brody Myopathy;Brody myopathy, 601003 False 1 0;0;0 9.32 False ENSG00000196296 ENSG00000196296 HGNC:811 BAG3 gene BAG3 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6, 612954Cardiomyopathy, dilated, 1HH, 613881;Myofibrillar Myopathy, Dominant False 1 0;0;0 9.32 False ENSG00000151929 ENSG00000151929 HGNC:939 BIN1 gene BIN1 Expert;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Centronuclear Myopathy, Recessive;Myopathy, centronuclear, autosomal recessive, 255200 False 1 0;100;0 9.32 False ENSG00000136717 ENSG00000136717 HGNC:1052 C12orf65 gene C12orf65 Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, OMIM:615035 24080142 False 1 0;100;0 9.32 False ENSG00000130921 ENSG00000130921 HGNC:26784 CAMLG gene CAMLG Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 9.32 False ENSG00000164615 ENSG00000164615 HGNC:1471 CAPN3 gene CAPN3 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000092529 ENSG00000092529 HGNC:1480 CAV3 gene CAV3 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Muscular dystrophy, limb-girdle, type IC, 607801Rippling muscle disease, 606072Creatine phosphokinase, elevated serum, 123320Myopathy, distal, Tateyama type, 614321Cardiomyopathy, familial hypertrophic, 192600 False 1 0;0;0 9.32 False ENSG00000182533 ENSG00000182533 HGNC:1529 CCDC47 gene CCDC47 Expert Review Red Arthrogryposis Neurology Trichohepatoneurodevelopmental syndrome, OMIM:618268 False 1 0;100;0 9.32 False ENSG00000108588 ENSG00000108588 HGNC:24856 CCDC78 gene CCDC78 Expert;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Myopathy, centronuclear, 4, 614807 False 1 0;0;0 9.32 False ENSG00000162004 ENSG00000162004 HGNC:14153 CEP55 gene CEP55 Expert Review Red;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly, 236500 28264986;30622327 False 1 0;100;0 9.32 False ENSG00000138180 ENSG00000138180 HGNC:1161 CFL2 gene CFL2 Expert;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 7, autosomal recessive, 610687;Nemaline Myopathy, Recessive False 1 0;0;100 9.32 False ENSG00000165410 ENSG00000165410 HGNC:1875 CHCHD10 gene CHCHD10 Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 False 1 0;0;0 9.32 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHKB gene CHKB Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, CKHB-related;Muscular dystrophy, congenital, megaconial type, 602541 False 1 100;0;0 9.32 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHMP1A gene CHMP1A Expert Review Red Arthrogryposis Neurology False 1 0;100;0 9.32 False ENSG00000131165 ENSG00000131165 HGNC:8740 CLCF1 gene CLCF1 Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 9.32 False ENSG00000175505 ENSG00000175505 HGNC:17412 COL4A1 gene COL4A1 Expert Review;Expert Review Red Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted walker warburg syndrome, muscle eye brain disease False 1 0;0;0 9.32 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review;Expert Review Red Arthrogryposis Neurology False 1 0;0;100 9.32 False ENSG00000134871 ENSG00000134871 HGNC:2203 COL9A3 gene COL9A3 Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 False 1 0;0;0 9.32 False ENSG00000092758 ENSG00000092758 HGNC:2219 CPT2 gene CPT2 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836 False 1 0;0;0 9.32 False ENSG00000157184 ENSG00000157184 HGNC:2330 CRYAB gene CRYAB Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 2, OMIM:608810;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 False 1 0;0;0 9.32 False ENSG00000109846 ENSG00000109846 HGNC:2389 CTDP1 gene CTDP1 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000060069 ENSG00000060069 HGNC:2498 CUL4B gene CUL4B Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000158290 ENSG00000158290 HGNC:2555 DES gene DES Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown myofibrillar myopathy;Myopathy, myofibrillar, 1, 601419Cardiomyopathy, dilated, 1I, 604765Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400?Muscular dystrophy, limb-girdle, type 2R, 615325;Myofibrillar Myopathy, Dominant False 1 0;0;0 9.32 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045;Duchenne or Becker muscular dystrophy False 1 100;0;0 9.32 False ENSG00000198947 ENSG00000198947 HGNC:2928 DMPK gene DMPK Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 100;0;0 9.32 False Other - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 DNAJB6 gene DNAJB6 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myofibrillar Myopathy, Dominant False 1 0;0;0 9.32 False ENSG00000105993 ENSG00000105993 HGNC:14888 DOLK gene DOLK Expert Review;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal CDG Im False 1 100;0;0 9.32 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPM1 gene DPM1 Emory Genetics Laboratory;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799 False 1 0;100;0 9.32 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM3 gene DPM3 Emory Genetics Laboratory;Expert Review Red Arthrogryposis Neurology congenital muscular dystrophies False 1 0;100;0 9.32 False ENSG00000179085 ENSG00000179085 HGNC:3007 DUX4 gene DUX4 Expert Review Red;UKGTN Arthrogryposis Neurology Facioscapulohumeral Muscular Dystrophy 1A False 1 0;0;100 9.32 False ENSG00000258389 ENSG00000260596 HGNC:50800 DYSF gene DYSF Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130;Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768;Miyoshi muscular dystrophy 1, 254130;Limb-Girdle Muscular Dystrophy, Recessive False 1 0;100;0 9.32 False ENSG00000135636 ENSG00000135636 HGNC:3097 EGR2 gene EGR2 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000122877 ENSG00000122877 HGNC:3239 EMD gene EMD Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 False 1 0;100;0 9.32 False ENSG00000102119 ENSG00000102119 HGNC:3331 ETFA gene ETFA Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA 231680 False 1 0;0;100 9.32 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB 231680 False 1 0;0;100 9.32 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC 231680 False 1 0;0;100 9.32 False ENSG00000171503 ENSG00000171503 HGNC:3483 EXOSC9 gene EXOSC9 Expert Review Red Arthrogryposis Neurology False 1 0;100;0 9.32 False ENSG00000123737 ENSG00000123737 HGNC:9137 FAM111B gene FAM111B Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3) 24268661 False 1 0;0;100 9.32 False ENSG00000189057 ENSG00000189057 HGNC:24200 FHL1 gene FHL1 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000022267 ENSG00000022267 HGNC:3702 FKBP14 gene FKBP14 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, False 1 0;0;0 9.32 False ENSG00000106080 ENSG00000106080 HGNC:18625 GAA gene GAA Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 9.32 False ENSG00000171298 ENSG00000171298 HGNC:4065 GARS gene GARS Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000106105 ENSG00000106105 HGNC:4162 GDAP1 gene GDAP1 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000104381 ENSG00000104381 HGNC:15968 GFER gene GFER Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 False 1 0;0;0 9.32 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM2 gene GFM2 Expert Review Red;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, OMIM:618397 26016410 False 1 0;100;0 9.32 False ENSG00000164347 ENSG00000164347 HGNC:29682 GFPT1 gene GFPT1 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Myasthenic Syndrome, Recessive;Myasthenia, congenital, with tubular aggregates 1, 610542 False 1 0;0;0 9.32 False ENSG00000198380 ENSG00000198380 HGNC:4241 GNE gene GNE Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy 605820 False 1 0;0;100 9.32 False ENSG00000159921 ENSG00000159921 HGNC:23657 GRN gene GRN Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485Myasthenia, limb-girdle, familial, 254300 False 1 0;0;0 9.32 False ENSG00000030582 ENSG00000030582 HGNC:4601 HADH gene HADH Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000138029 ENSG00000138029 HGNC:4803 HNRNPA1 gene HNRNPA1 Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal False 1 0;0;0 9.32 False ENSG00000135486 ENSG00000135486 HGNC:5031 HRAS gene HRAS Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Bladder cancer, somatic}, 109800Costello syndrome, 218040{Thyroid carcinoma, follicular, somatic}, 188470Congenital myopathy with excess of muscle spindles, 218040{Nevus sebaceous, somatic}, 162900Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 False 1 0;0;0 9.32 False ENSG00000174775 ENSG00000174775 HGNC:5173 IBA57 gene IBA57 Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 23462291 False 1 0;0;100 9.32 False ENSG00000181873 ENSG00000181873 HGNC:27302 IGHMBP2 gene IGHMBP2 Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI 604320 11528396 False 1 0;0;100 9.32 False ENSG00000132740 ENSG00000132740 HGNC:5542 ISCU gene ISCU Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Myopathy with lactic acidosis, hereditary, 255125 False 1 0;0;0 9.32 False ENSG00000136003 ENSG00000136003 HGNC:29882 ISLR2 gene ISLR2 Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal hydrocephalus;arthrogryposis 30483960 False 1 0;100;0 9.32 False ENSG00000167178 ENSG00000167178 HGNC:29286 ITGA7 gene ITGA7 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, ITGA7-related;Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 False 1 100;0;0 9.32 False ENSG00000135424 ENSG00000135424 HGNC:6143 KBTBD13 gene KBTBD13 Expert;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline Myopathy, Dominant;Nemaline myopathy 6, autosomal dominant, 609273 False 1 0;0;100 9.32 False ENSG00000234438 ENSG00000234438 HGNC:37227 KIF26B gene KIF26B Expert Review Red;Literature Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis 30151950 False 1 0;0;100 9.32 False ENSG00000162849 ENSG00000162849 HGNC:25484 KIF5C gene KIF5C Expert Review Red Arthrogryposis Neurology False 1 0;100;0 9.32 False ENSG00000168280 ENSG00000168280 HGNC:6325 L1CAM gene L1CAM Expert Review Red;NHS GMS;Other Arthrogryposis Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females arthrogryposis;congenital hypopituitarism PMID: 31504653 False 1 0;0;100 9.32 False ENSG00000198910 ENSG00000198910 HGNC:6470 LAMP2 gene LAMP2 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Unknown Danon disease 300257 10972294 False 1 0;100;0 9.32 False ENSG00000005893 ENSG00000005893 HGNC:6501 LDB3 gene LDB3 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myofibrillar Myopathy, Dominant;Myopathy, myofibrillar, 4, 609452 False 1 0;0;100 9.32 False ENSG00000122367 ENSG00000122367 HGNC:15710 LMNA gene LMNA Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital Muscular Dystrophy, LMNA-related (Dominant);Emery-Dreifuss muscular dystrophy 2, AD, 181350 18478590 False 1 100;0;0 9.32 False ENSG00000160789 ENSG00000160789 HGNC:6636 LPIN1 gene LPIN1 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000134324 ENSG00000134324 HGNC:13345 MATR3 gene MATR3 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 21 606070 False 1 0;0;100 9.32 False ENSG00000015479 ENSG00000015479 HGNC:6912 MEGF10 gene MEGF10 Expert;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 False 1 0;0;100 9.32 False ENSG00000145794 ENSG00000145794 HGNC:29634 MFN2 gene MFN2 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000116688 ENSG00000116688 HGNC:16877 MICU1 gene MICU1 Expert Review;Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Myopathy with extrapyramidal signs, 615673 (3);myopathy with extrapyramidal signs False 1 100;0;0 9.32 False ENSG00000107745 ENSG00000107745 HGNC:1530 MPZ gene MPZ Expert list;Expert Review Red Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, congenital hypomyelinating 605253 8816708;26310628 False 1 0;0;100 9.32 False ENSG00000158887 ENSG00000158887 HGNC:7225 MTMR1 gene MTMR1 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000063601 ENSG00000063601 HGNC:7449 MT-TL1 gene MT-TL1 Expert Review Red;UKGTN Arthrogryposis Neurology MITOCHONDRIAL False 1 0;0;0 9.32 False ENSG00000209082 ENSG00000209082 HGNC:7490 MYF6 gene MYF6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Centronuclear Myopathy, Dominant;Myopathy, centronuclear, 3, 614408 False 1 0;0;100 9.32 False ENSG00000111046 ENSG00000111046 HGNC:7566 MYH14 gene MYH14 Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Deafness, autosomal dominant 4A, 600652Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 False 1 0;0;0 9.32 False ENSG00000105357 ENSG00000105357 HGNC:23212 MYH2 gene MYH2 Expert;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Proximal myopathy and ophthalmoplegia, OMIM:605637;Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 23489661;24193343;20418530 False 1 100;0;0 9.32 False ENSG00000125414 ENSG00000125414 HGNC:7572 MYH7 gene MYH7 Expert;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laing distal myopathy, OMIM:160500;Laing early-onset distal myopathy, MONDO:0008050 False 1 0;0;100 9.32 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL1 gene MYL1 Expert Review Red;Other Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414;Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 30215711 False 1 0;50;50 9.32 False ENSG00000168530 ENSG00000168530 HGNC:7582 MYO9A gene MYO9A Expert Review Red;Other Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198;Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597 26752647;9819351;10409426;22305756 False 1 0;0;100 9.32 False ENSG00000066933 ENSG00000066933 HGNC:7608 MYOT gene MYOT Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 3, OMIM:609200;Myopathy, spheroid body, OMIM:182920 False 1 0;0;0 9.32 False ENSG00000120729 ENSG00000120729 HGNC:12399 NEFL gene NEFL Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000104725 ENSG00000277586 HGNC:7739 PABPN1 gene PABPN1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculopharyngeal muscular dystrophy, 164300;Oculopharyngeal muscular dystrophy False 1 0;0;100 9.32 False ENSG00000100836 ENSG00000100836 HGNC:8565 PI4KA gene PI4KA Expert Review Red;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531 25855803 False 1 0;0;100 9.32 False ENSG00000241973 ENSG00000241973 HGNC:8983 PIGS gene PIGS Expert Review Red Arthrogryposis Neurology False 1 0;100;0 9.32 False ENSG00000087111 ENSG00000087111 HGNC:14937 PLEC gene PLEC Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy with epidermolysis bullosa simplex, 226670 False 1 0;0;100 9.32 False ENSG00000178209 ENSG00000178209 HGNC:9069 PNPLA2 gene PNPLA2 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Neutral Lipid Storage Disease with Myopathy;Neutral lipid storage disease with myopathy, 610717 False 1 0;0;0 9.32 False ENSG00000177666 ENSG00000177666 HGNC:30802 POLG gene POLG Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 9.32 False ENSG00000140521 ENSG00000140521 HGNC:9179 PSD3 gene PSD3 Other Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Antecubital pterygium syndrome 26752647 False 1 0;0;0 9.32 False ENSG00000156011 ENSG00000156011 HGNC:19093 PUS1 gene PUS1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy and sideroblastic anemia 1, 600462;Myopathy, Lactic Acidosis, and Sideroblastic Anemia False 1 0;0;0 9.32 False ENSG00000177192 ENSG00000177192 HGNC:15508 PYGM gene PYGM Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000068976 ENSG00000068976 HGNC:9726 RBCK1 gene RBCK1 Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 False 1 0;0;0 9.32 False ENSG00000125826 ENSG00000125826 HGNC:15864 RRM2B gene RRM2B Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000048392 ENSG00000048392 HGNC:17296 SGCA gene SGCA Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGCG gene SGCG Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000102683 ENSG00000102683 HGNC:10809 SIL1 gene SIL1 Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 9.32 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC22A5 gene SLC22A5 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A4 gene SLC25A4 Expert Review Red;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal mitochondrial myopathy PMID:25732997 False 1 0;0;0 9.32 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Expert Review Red;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction 26541337 False 1 0;0;0 9.32 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC52A3 gene SLC52A3 Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 9.32 False ENSG00000101276 ENSG00000101276 HGNC:16187 SMCHD1 gene SMCHD1 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 False 1 0;0;100 9.32 False ENSG00000101596 ENSG00000101596 HGNC:29090 STIM2 gene STIM2 Expert Review Red;UKGTN Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000109689 ENSG00000109689 HGNC:19205 SYNE2 gene SYNE2 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emery-Dreifuss Muscular Dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 False 1 0;0;100 9.32 False ENSG00000054654 ENSG00000054654 HGNC:17084 SYT2 gene SYT2 Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy, 616040 False 1 0;0;0 9.32 False ENSG00000143858 ENSG00000143858 HGNC:11510 TBCD gene TBCD Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193;Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 27666374 False 1 50;50;0 9.32 False ENSG00000141556 ENSG00000141556 HGNC:11581 TCAP gene TCAP Emory Genetics Laboratory;Expert list;Expert Review Red Arthrogryposis Neurology Congenital muscular dystrophies False 1 0;0;100 9.32 False ENSG00000173991 ENSG00000173991 HGNC:11610 TIA1 gene TIA1 Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Welander distal myopathy, 604454 False 1 0;0;0 9.32 False ENSG00000116001 ENSG00000116001 HGNC:11802 TK2 gene TK2 Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM43 gene TMEM43 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology Arrhythmogenic right ventricular dysplasia 5, 604400 False 1 0;0;100 9.32 False ENSG00000170876 ENSG00000170876 HGNC:28472 TRIM32 gene TRIM32 Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 9.32 False ENSG00000119401 ENSG00000119401 HGNC:16380 TSEN2 gene TSEN2 Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 9.32 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert list;Expert Review Red Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C 612390 False 1 0;0;100 9.32 False ENSG00000170892 ENSG00000170892 HGNC:15506 UNC50 gene UNC50 Expert Review Red;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 29016857;33820833 False 1 0;100;0 9.32 False ENSG00000115446 ENSG00000115446 HGNC:16046 UTRN gene UTRN Expert list;Expert Review Red Arthrogryposis Neurology False 1 0;0;0 9.32 False ENSG00000152818 ENSG00000152818 HGNC:12635 VCP gene VCP Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 Inclusion body myopathy,Paget disease and frontotemporal dementia 1, 167320 ;Inclusion Body Myopathy, Dominant;Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia False 1 0;0;0 9.32 False ENSG00000165280 ENSG00000165280 HGNC:12666 VPS8 gene VPS8 Expert Review Red;Other Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis; OrphaNet ORPHA1037; OMIM108120 26752647;8969229;23840658 False 1 0;0;0 9.32 False ENSG00000156931 ENSG00000156931 HGNC:29122 YARS2 gene YARS2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis;Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 False 1 0;0;0 9.32 False ENSG00000139131 ENSG00000139131 HGNC:24249 ZNF335 gene ZNF335 Expert Review Red;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly 10, primary, autosomal recessive 23178126 False 1 0;100;0 9.32 False ENSG00000198026 ENSG00000198026 HGNC:15807