Congenital Disorder Of Glycosylation(Carbohydrate-deficient glycoprotein syndrome)
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ALG2/85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | 9q22.33 | Chr9, NC_000009.12 (99216425..99221942, complement) |
5518 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | DPM1/8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | 20q13.13 | Chr20, NC_000020.11 (50934855..50958564, complement) |
23710 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | DDOST/1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | 1p36.12 | Chr1, NC_000001.11 (20651777..20661369, complement) |
9593 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | NUS1/116150 | NUS1 dehydrodolichyl diphosphate synthase subunit | 6q22.1 | Chr6, NC_000006.12 (117675469..117710727) |
35259 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | PGM1/5236 | phosphoglucomutase 1 | 1p31.3 | Chr1, NC_000001.11 (63593411..63660245) |
66835 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | ALG3/10195 | ALG3 alpha-1,3- mannosyltransferase | 3q27.1 | Chr3, NC_000003.12 (184242301..184249525, complement) |
7225 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | TUSC3/7991 | tumor suppressor candidate 3 | 8p22 | Chr8, NC_000008.11 (15417188..15852091) |
434904 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | DPAGT1/1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | 11q23.3 | Chr11, NC_000011.10 (119093874..119101853, complement) |
7980 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | ALG8/79053 | ALG8 alpha-1,3-glucosyltransferase | 11q14.1 | Chr11, NC_000011.10 (78100946..78139626, complement) |
38681 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | ALG9/79796 | ALG9 alpha-1,2-mannosyltransferase | 11q23.1 | Chr11, NC_000011.10 (111768025..111871581, complement) |
103557 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | COG6/57511 | component of oligomeric golgi complex 6 | 13q14.11 | Chr13, NC_000013.11 (39655627..39791666) |
136040 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | MGAT2/4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | 14q21.3 | Chr14, NC_000014.9 (49620799..49623481) |
2683 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | COG7/91949 | component of oligomeric golgi complex 7 | 16p12.2 | Chr16, NC_000016.10 (23388493..23453189, complement) |
64697 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | COG8/84342 | component of oligomeric golgi complex 8 | 16q22.1 | Chr16, NC_000016.10 (69326428..69339564, complement) |
13137 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | MPDU1/9526 | mannose-P-dolichol utilization defect 1 | 17p13.1 | Chr17, NC_000017.11 (7583647..7588212) |
4566 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | COG2/22796 | component of oligomeric golgi complex 2 | 1q42.2 | Chr1, NC_000001.11 (230642481..230693982) |
51502 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | DHDDS/79947 | dehydrodolichyl diphosphate synthase subunit | 1p36.11 | Chr1, NC_000001.11 (26432321..26471306) |
38986 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | FUT8/2530 | fucosyltransferase 8 | 14q23.3 | Chr14, NC_000014.9 (65356842..65744121) |
387280 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | RPN2/6185 | ribophorin II | 20q11.23 | Chr20, NC_000020.11 (37179330..37241619) |
62290 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | FCSK/197258 | fucose kinase | 16q22.1 | Chr16, NC_000016.10 (70454595..70480274) |
25680 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | MAGT1/84061 | magnesium transporter 1 | Xq21.1 | ChrX, NC_000023.11 (77825747..77895568, complement) |
69822 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | SRD5A3/79644 | steroid 5 alpha-reductase 3 | 4q12 | Chr4, NC_000004.12 (55346242..55373100) |
26859 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | ALG1/56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 16p13.3 | Chr16, NC_000016.10 (5071843..5087379) |
15537 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | ATP6AP2/10159 | ATPase H+ transporting accessory protein 2 | Xp11.4 | ChrX, NC_000023.11 (40580970..40606848) |
25879 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | GALNT2/2590 | polypeptide N-acetylgalactosaminyltransferase 2 | 1q42.13 | Chr1, NC_000001.11 (230057789..230282122) |
224334 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | SSR3/6747 | signal sequence receptor subunit 3 | 3q25.31 | Chr3, NC_000003.12 (156539553..156555117, complement) |
15565 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 27 | SLC37A4/2542 | solute carrier family 37 member 4 | 11q23.3 | Chr11, NC_000011.10 (119024112..119030877, complement) |
6766 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 28 | ALG13/79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Xq23 | ChrX, NC_000023.11 (111681170..111760649) |
79480 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 29 | EDEM3/80267 | ER degradation enhancing alpha-mannosidase like protein 3 | 1q25.3 | Chr1, NC_000001.11 (184690237..184754858, complement) |
64622 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 30 | STT3A/3703 | STT3 oligosaccharyltransferase complex catalytic subunit A | 11q24.2 | Chr11, NC_000011.10 (125591769..125623091) |
31323 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 31 | SLC35A2/7355 | solute carrier family 35 member A2 | Xp11.23 | ChrX, NC_000023.11 (48903183..48911958, complement) |
8776 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 32 | CAMLG/819 | calcium modulating ligand | 5q31.1 | Chr5, NC_000005.10 (134738548..134752157) |
13610 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 33 | COG3/83548 | component of oligomeric golgi complex 3 | 13q14.13 | Chr13, NC_000013.11 (45464939..45536701) |
71763 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 34 | CACNA1D/776 | calcium voltage-gated channel subunit alpha1 D | 3p21.1 | Chr3, NC_000003.12 (53494611..53813733) |
319123 nt | 55 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||