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 B3GALNT2 gene B3GALNT2 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181 23453667 False 3 67;33;0 6.8 False ENSG00000162885 ENSG00000162885 HGNC:28596 B4GAT1 gene B4GAT1 Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 23877401;23359570 False 3 50;25;25 6.8 False ENSG00000174684 ENSG00000174684 HGNC:15685 BET1 gene BET1 Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital muscular dystrophy, MONDO:0019950 34779586 False 3 67;33;0 6.8 False ENSG00000105829 ENSG00000105829 HGNC:14562 CAVIN1 gene CAVIN1 Expert list;Expert Review Green;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4, OMIM:613327 19726876;12116229 False 3 100;0;0 6.8 False ENSG00000177469 ENSG00000177469 HGNC:9688 CHKB gene CHKB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, OMIM:602541 16371353;21665002 False 3 67;33;0 6.8 False ENSG00000100288 ENSG00000100288 HGNC:1938 CIAO1 gene CIAO1 Expert Review Green;Literature;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 38950322 False 3 100;0;0 6.8 False ENSG00000144021 ENSG00000144021 HGNC:14280 COL12A1 gene COL12A1 Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 24334769;24334604;27348394 False 3 67;33;0 6.8 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL6A1 gene COL6A1 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, OMIM:158810;Ullrich congenital muscular dystrophy 1, OMIM:254090 15955946;23738969;25535305 False 3 67;33;0 6.8 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, 158810;Ullrich congenital muscular dystrophy, 254090 15689448 False 3 67;33;0 6.8 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 15689448 False 3 67;33;0 6.8 False ENSG00000163359 ENSG00000163359 HGNC:2213 DAG1 gene DAG1 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818 25934851;24052401;22810924;26380289;35082294 False 3 75;25;0 6.8 False ENSG00000173402 ENSG00000173402 HGNC:2666 DMD gene DMD Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Becker muscular dystrophy, OMIM:300376;Duchenne muscular dystrophy, OMIM:310200 False 3 100;0;0 6.8 False ENSG00000198947 ENSG00000198947 HGNC:2928 DOLK gene DOLK Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im, OMIM:610768 17273964;22242004;23890587 False 3 67;33;0 6.8 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPM2 gene DPM2 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, OMIM:615042 19901254;23109149 False 3 50;50;0 6.8 False ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937;?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992 19576565;35932216;33200426;31266720;31469168;28803818 False 3 43;43;14 6.8 False ENSG00000179085 ENSG00000179085 HGNC:3007 DTNA gene DTNA Expert Review Green;Literature;NHS GMS Congenital muscular dystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted muscular dystrophy, MONDO:0020121 36799992 False 3 100;0;0 6.8 False Other ENSG00000134769 ENSG00000134769 HGNC:3057 EMD gene EMD Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300 21697856;31645980;31802929;34026875 False 3 50;25;25 6.8 False ENSG00000102119 ENSG00000102119 HGNC:3331 FHL1 gene FHL1 Expert Review;Expert Review Green;NHS GMS Congenital muscular dystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, OMIM:300717 19181672;19171836 False 3 33;67;0 6.8 False ENSG00000022267 ENSG00000022267 HGNC:3702 FKRP gene FKRP Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153;Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, OMIM:606612 11592034 False 3 67;33;0 6.8 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800;Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588 12601708;14627679 False 3 67;33;0 6.8 False ENSG00000106692 ENSG00000106692 HGNC:3622 GGPS1 gene GGPS1 Expert Review Green;Literature;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 35869884;32403198 False 3 100;0;0 6.8 False ENSG00000152904 ENSG00000152904 HGNC:4249 GMPPB gene GMPPB Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, OMIM:615350;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352 26133662;23768512 False 3 67;33;0 6.8 False ENSG00000173540 ENSG00000173540 HGNC:22932 GOLGA2 gene GOLGA2 Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240 26742501;30237576;34424553 False 3 80;20;0 6.8 False ENSG00000167110 ENSG00000167110 HGNC:4425 GOSR2 gene GOSR2 Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with or without seizures, OMIM:620166 29855340;33639315;34167170 False 3 71;14;14 6.8 False ENSG00000108433 ENSG00000108433 HGNC:4431 HNRNPA2B1 gene HNRNPA2B1 Expert list;Expert Review Green;NHS GMS;Other;Research Congenital muscular dystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422 35484142 False 3 100;0;0 6.8 False ENSG00000122566 ENSG00000122566 HGNC:5033 INPP5K gene INPP5K Expert Review Green;Literature;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 28190459;28190456 False 3 50;50;0 6.8 False ENSG00000132376 ENSG00000132376 HGNC:33882 ISPD gene ISPD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643 22522420;22522421 False 3 67;33;0 6.8 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITGA7 gene ITGA7 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204 9590299;18045857;26076707 False 3 75;25;0 6.8 False ENSG00000135424 ENSG00000135424 HGNC:6143 JAG2 gene JAG2 Expert Review Green;Literature;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566 33861953 False 3 100;0;0 6.8 False ENSG00000184916 ENSG00000184916 HGNC:6189 LAMA2 gene LAMA2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855 12552556;7550355 False 3 67;33;0 6.8 False ENSG00000196569 ENSG00000196569 HGNC:6482 LARGE1 gene LARGE1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, OMIM:608840 12966029 False 3 67;33;0 6.8 False ENSG00000133424 ENSG00000133424 HGNC:6511 LMNA gene LMNA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital Muscular Dystrophy, LMNA-related (Dominant);Emery-Dreifuss muscular dystrophy 2, AD, 181350 15622532;18551513;15148145 False 3 100;0;0 6.8 False ENSG00000160789 ENSG00000160789 HGNC:6636 MICU1 gene MICU1 Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, 615673 24336167 False 3 67;33;0 6.8 False ENSG00000107745 ENSG00000107745 HGNC:1530 MSTO1 gene MSTO1 Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia, OMIM:617675 28544275;28554942;31130378;29339779;37431817 False 3 50;50;0 6.8 False ENSG00000125459 ENSG00000125459 HGNC:29678 PLEC gene PLEC Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723;Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 21109228;20624679;28447722 False 3 33;33;33 6.8 False ENSG00000178209 ENSG00000178209 HGNC:9069 POGLUT1 gene POGLUT1 Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232;autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 27807076;29034878;31897643;33861953 False 3 75;25;0 6.8 False ENSG00000163389 ENSG00000163389 HGNC:22954 POMGNT1 gene POMGNT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151 11709191;12588800 False 3 67;33;0 6.8 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830 22958903;27066570 False 3 67;33;0 6.8 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249 23519211;24556084 False 3 67;33;0 6.8 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, OMIM:613155;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, OMIM:609308 12369018 False 3 67;33;0 6.8 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, OMIM:613150;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, OMIM:613156 15894594;17559086 False 3 67;33;0 6.8 False ENSG00000009830 ENSG00000009830 HGNC:19743 PYROXD1 gene PYROXD1 Expert Review Green;Literature;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal muscular dystrophy 33694278;30515627 False 3 100;0;0 6.8 False Other ENSG00000121350 ENSG00000121350 HGNC:26162 SELENON gene SELENON Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1, 602771 23217329 False 3 67;33;0 6.8 False ENSG00000162430 ENSG00000162430 HGNC:15999 SIL1 gene SIL1 Expert Review Green;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, OMIM:248800 11528383 False 3 100;0;0 6.8 False ENSG00000120725 ENSG00000120725 HGNC:24624 SYNE1 gene SYNE1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998;Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 27782104;19542096 False 3 50;50;0 6.8 False ENSG00000131018 ENSG00000131018 HGNC:17089 TMEM5 gene TMEM5 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041 16282978 False 3 67;33;0 6.8 False ENSG00000118600 ENSG00000118600 HGNC:13530 TRAPPC11 gene TRAPPC11 Expert Review Green;Literature;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356 26322222;29855340 False 3 100;0;0 6.8 False ENSG00000168538 ENSG00000168538 HGNC:25751 ACTA1 gene ACTA1 Expert Review;Expert Review Amber Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal CMD with rigid spine;Nemaline myopathy 3, autosomal dominant or recessive 161800;Myopathy, congenital, with fiber-type disproportion 1 255310 24642510;25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele);25913210;26436962;20179953 False 2 0;50;50 6.8 False ENSG00000143632 ENSG00000143632 HGNC:129 COL4A1 gene COL4A1 Expert Review;Expert Review Amber;London South GLH;NHS GMS Congenital muscular dystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773;autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726 32842921;28056338;22037604;21625620;18160688;20818663 False 2 40;40;20 6.8 False ENSG00000187498 ENSG00000187498 HGNC:2202 DPM1 gene DPM1 Emory Genetics Laboratory;Expert Review Amber;London South GLH;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799 10642597;10642602;15669674;16641202;23856421;27481510;28139241;30653653 False 2 33;67;0 6.8 False ENSG00000000419 ENSG00000000419 HGNC:3005 DYSF gene DYSF Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1, OMIM:254130;Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601;Myopathy, distal, with anterior tibial onset, OMIM:606768 25821721 False 2 0;100;0 6.8 False ENSG00000135636 ENSG00000135636 HGNC:3097 TCAP gene TCAP Emory Genetics Laboratory;Expert Review Amber Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954 23479141;21530252 False 2 0;50;50 6.8 False ENSG00000173991 ENSG00000173991 HGNC:11610 TK2 gene TK2 Expert Review Amber;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 11687801;18021809;18819985;19736010;38544965;40098049 False 2 100;0;0 6.8 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166548 ENSG00000166548 HGNC:11831 ANO5 gene ANO5 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 3, OMIM:613319;Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307 False 1 0;0;100 6.8 False ENSG00000171714 ENSG00000171714 HGNC:27337 COL4A2 gene COL4A2 Expert Review;Expert Review Red;London South GLH;NHS GMS Congenital muscular dystrophy Neurology Unknown 22037604 False 1 0;33;67 6.8 False ENSG00000134871 ENSG00000134871 HGNC:2203 DUX4 gene DUX4 UKGTN Congenital muscular dystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral Muscular Dystrophy 1A 28040729;27922500;27816329;27841748;27672539 False 1 0;0;100 6.8 False Other - please provide details in the comments ENSG00000258389 ENSG00000260596 HGNC:50800 MYMK gene MYMK Expert Review Red;Literature;NHS GMS Congenital muscular dystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, OMIM:254940;Carey-Fineman-Ziter syndrome, MONDO:0009700 28681861 False 1 33;0;67 6.8 False ENSG00000187616 ENSG00000187616 HGNC:33778 PABPN1 gene PABPN1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculopharyngeal muscular dystrophy, OMIM:164300 False 1 0;0;100 6.8 False ENSG00000100836 ENSG00000100836 HGNC:8565 RYR1 gene RYR1 Emory Genetics Laboratory;Expert Review Red Congenital muscular dystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital muscular dystrophies;Central core disease;Minicore myopathy with external ophthalmoplegia;Neuromuscular disease, congenital, with uniform type 1 fiber False 1 100;0;0 6.8 False ENSG00000196218 ENSG00000196218 HGNC:10483 SMCHD1 gene SMCHD1 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy Neurology Other Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901 False 1 0;0;100 6.8 False ENSG00000101596 ENSG00000101596 HGNC:29090 SYNE2 gene SYNE2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 False 1 0;0;100 6.8 False ENSG00000054654 ENSG00000054654 HGNC:17084 TMEM43 gene TMEM43 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302 False 1 0;0;100 6.8 False ENSG00000170876 ENSG00000170876 HGNC:28472 DMPK_CTG str DMPK Expert Review Green;NHS GMS;Expert Review Congenital muscular dystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 3 0;0;0 6.8 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50