Belgian Genetic Tests database- Diseases
- Congenital myasthenic syndromes with glycosylation defect
Congenital myasthenic syndromes with glycosylation defect
| Name: |
Congenital myasthenic syndromes with glycosylation defect
|
| ORPHAcode: |
353327
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|
-
Congenital disorders of glycosylation (79 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALDOB 95.00 0 NM_000035.3/ interpretable range CS1>95% ALG1 95.00 0 NM_019109.4/ interpretable range CS1>95% ALG10 95.00 0 NM_032834.3/ interpretable range CS1>95% ALG11 95.00 0 NM_001004127.2/ interpretable range CS1>95% ALG12 95.00 0 NM_024105.3/ interpretable range CS1>95% ALG13 95.00 0 NM_001099922.2/ interpretable range CS1>95% ALG14 95.00 0 NM_144988.3/ interpretable range CS1>95% ALG2 95.00 0 NM_033087.3/ interpretable range CS1>95% ALG3 95.00 0 NM_005787.5/ interpretable range CS1>95% ALG5 95.00 0 NM_013338.4/ interpretable range CS1>95% ALG6 95.00 0 NM_013339.3/ interpretable range CS1>95% ALG8 95.00 0 NM_024079.4/ interpretable range CS1>95% ALG9 95.00 0 NM_024740.2/ interpretable range CS1>95% ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95% ATP9B 95.00 0 NM_198531.4/ interpretable range CS1>95% B3GLCT 95.00 0 NM_194318.3/ interpretable range CS1>95% B4GALT1 95.00 0 NM_001497.3/ interpretable range CS1>95% COG1 95.00 0 NM_018714.2/ interpretable range CS1>95% COG2 95.00 0 NM_007357.2/ interpretable range CS1>95% COG3 95.00 0 NM_031431.3/ interpretable range CS1>95% COG4 95.00 0 NM_015386.2/ interpretable range CS1>95% COG5 95.00 0 NM_006348.3/ interpretable range CS1>95% COG6 95.00 0 NM_020751.2/ interpretable range CS1>95% COG7 95.00 0 NM_153603.3/ interpretable range CS1>95% COG8 95.00 0 NM_032382.4/ interpretable range CS1>95% DAD1 95.00 0 NM_001344.3/ interpretable range CS1>95% DDOST 95.00 0 NM_005216.4/ interpretable range CS1>95% DHDDS 95.00 0 NM_024887.3/ interpretable range CS1>95% DOLK 95.00 0 NM_014908.3/ interpretable range CS1>95% DPAGT1 95.00 0 NM_001382.3/ interpretable range CS1>95% DPM1 95.00 0 NM_003859.2/ interpretable range CS1>95% DPM2 95.00 0 NM_003863.3/ interpretable range CS1>95% DPM3 95.00 0 NM_153741.1/ interpretable range CS1>95% FKRP 95.00 0 NM_024301.4/ interpretable range CS1>95% FKTN 95.00 0 NM_001079802.1/ interpretable range CS1>95% FUT1 95.00 0 NM_000148.3/ interpretable range CS1>95% GALE 95.00 0 NM_000403.3/ interpretable range CS1>95% GALK1 95.00 0 NM_000154.1/ interpretable range CS1>95% GALT 95.00 0 NM_000155.3/ interpretable range CS1>95% GFPT1 95.00 0 NM_002056.3/ interpretable range CS1>95% GMPPA 95.00 0 NM_205847.2/ interpretable range CS1>95% GMPPB 95.00 0 NM_013334.3/ interpretable range CS1>95% GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95% LARGE1 95.00 0 NM_004737.6/ interpretable range CS1>95% MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95% MAN1B1 95.00 0 NM_016219.4/ interpretable range CS1>95% MGAT1 95.00 0 NM_001114618.1/ interpretable range CS1>95% MGAT2 95.00 0 NM_002408.3/ interpretable range CS1>95% MOGS 95.00 0 NM_006302.2/ interpretable range CS1>95% MPDU1 95.00 0 NM_004870.3/ interpretable range CS1>95% MPI 95.00 0 NM_002435.2/ interpretable range CS1>95% OST4 95.00 0 NM_001134693.1/ interpretable range CS1>95% PGM1 95.00 0 NM_002633.2/ interpretable range CS1>95% PGM2 95.00 0 NM_018290.3/ interpretable range CS1>95% PGM3 95.00 0 NM_001199917.1/ interpretable range CS1>95% PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95% PIGL 95.00 0 NM_004278.3/ interpretable range CS1>95% PIGM 95.00 0 NM_145167.2/ interpretable range CS1>95% PIGN 95.00 0 NM_176787.4/ interpretable range CS1>95% PIGV 95.00 0 NM_017837.3/ interpretable range CS1>95% PMM2 95.00 0 NM_000303.2/ interpretable range CS1>95% POMGNT1 95.00 0 NM_017739.3/ interpretable range CS1>95% POMT1 95.00 0 NM_007171.3/ interpretable range CS1>95% POMT2 95.00 0 NM_013382.5/ interpretable range CS1>95% RFT1 95.00 0 NM_052859.3/ interpretable range CS1>95% RPN1 95.00 0 NM_002950.3/ interpretable range CS1>95% RPN2 95.00 0 NM_002951.4/ interpretable range CS1>95% SEC23B 95.00 0 NM_032985.5/ interpretable range CS1>95% SLC35A1 95.00 0 NM_006416.4/ interpretable range CS1>95% SLC35A3 95.00 0 NM_012243.2/ interpretable range CS1>95% SLC35C1 95.00 0 NM_018389.4/ interpretable range CS1>95% SLC35D1 95.00 0 NM_015139.2/ interpretable range CS1>95% SRD5A3 95.00 0 NM_024592.4/ interpretable range CS1>95% ST3GAL3 95.00 0 NM_174963.4/ interpretable range CS1>95% ST3GAL5 95.00 0 NM_003896.3/ interpretable range CS1>95% STT3A 95.00 0 NM_152713.4/ interpretable range CS1>95% STT3B 95.00 0 NM_178862.2/ interpretable range CS1>95% TMEM165 95.00 0 NM_018475.4/ interpretable range CS1>95% TUSC3 95.00 0 NM_006765.3/ interpretable range CS1>95% -
Neuromuscular disorders (166 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACADVL 0.00 0 No value for column 2 ACTA1 0.00 0 No value for column 2 AGRN 0.00 0 No value for column 2 ALDOA 0.00 0 No value for column 2 ALG14 0.00 0 No value for column 2 ALG2 99.94 0 No comment ALS2 100.00 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ASAH1 99.94 0 No comment ATP7A 100.00 0 No comment ATXN2 89.10 0 No comment B3GALNT2 85.88 0 No comment B4GAT1 100.00 0 No comment BAG3 100.00 0 No comment BICD2 100.00 0 No comment BIN1 100.00 0 No comment BSCL2 100.00 0 No comment C9ORF72 100.00 0 No comment CAV3 100.00 0 No comment CFL2 99.75 0 No comment CHAT 100.00 0 No comment CHKB 99.69 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment CPT2 98.71 0 No comment CRPPA 95.75 0 No comment CRYAB 100.00 0 No comment DAG1 100.00 0 No comment DAO 100.00 0 No comment DCTN1 100.00 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DMD 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 99.34 0 No comment DNM2 99.95 0 No comment DOK7 98.77 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DYNC1H1 100.00 0 No comment DYSF 100.00 0 No comment ECEL1 95.92 0 No comment EMD 99.84 0 No comment ENO3 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FBLN5 100.00 0 No comment FBXO38 100.00 0 No comment FDX2 100.00 0 No comment CFH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FUS 100.00 0 No comment GAA 100.00 0 No comment GARS1 99.53 0 No comment GFPT1 99.98 0 No comment GLE1 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GRN 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 100.00 0 No comment HEXB 99.82 0 No comment HNRNPA1 99.61 0 No comment HNRNPA2B1 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment IGHMBP2 100.00 0 No comment ISCU 99.39 0 No comment KBTBD13 97.91 0 No comment KLHL40 100.00 0 No comment KLHL9 100.00 0 No comment LAMA2 100.00 0 No comment LAMB2 100.00 0 No comment LARGE1 100.00 0 No comment LAS1L 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LPIN1 100.00 0 No comment CORIN 98.90 0 No comment MATR3 100.00 0 No comment MEGF10 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 100.00 0 No comment MYH3 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYOT 100.00 0 No comment NEB 99.99 0 No comment NEFH 84.73 0 No comment OPTN 100.00 0 No comment PABPN1 91.84 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 100.00 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHKA1 100.00 0 No comment PHKB 100.00 0 No comment PLEC 99.82 0 No comment PLEKHG5 99.10 0 No comment POLG 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PREPL 100.00 0 No comment PYGM 100.00 0 No comment QDPR 99.04 0 No comment RAPSN 100.00 0 No comment REEP1 97.37 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SCN4A 100.00 0 No comment SELENON 84.04 0 No comment SETX 100.00 0 No comment SIGMAR1 96.60 0 No comment SIL1 100.00 0 No comment SLC18A3 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 100.00 0 No comment SLC5A7 100.00 0 No comment SMN1 96.55 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SQSTM1 93.68 0 No comment SYT2 100.00 0 No comment TAF15 100.00 0 No comment TARDBP 100.00 0 No comment TFG 100.00 0 No comment TIA1 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 98.58 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TPM2 100.00 0 No comment TPM3 99.55 0 No comment TRPV4 100.00 0 No comment TSEN54 94.23 0 No comment TTN 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.88 0 No comment UNC13A 99.87 0 No comment VAPB 100.00 0 No comment VCP 98.45 0 No comment VEGFA 98.73 0 No comment VRK1 100.00 0 No comment