Dyskeratosis Congenita(Zinsser-Engman-Cole syndrome) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Skin 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 | NOP10/55505 | NOP10 ribonucleoprotein | 15q14 | Chr15, NC_000015.10 (34341719..34343136, complement) |
1418 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NHP2/55651 | NHP2 ribonucleoprotein | 5q35.3 | Chr5, NC_000005.10 (178149463..178153885, complement) |
4423 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | TINF2/26277 | TERF1 interacting nuclear factor 2 | 14q12 | Chr14, NC_000014.9 (24239640..24242674, complement) |
3035 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | TERC/7012 | telomerase RNA component | 3q26.2 | Chr3, NC_000003.12 (169764610..169765060, complement) |
451 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | DKC1/1736 | dyskerin pseudouridine synthase 1 | Xq28 | ChrX, NC_000023.11 (154762864..154777689) |
14826 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | TERT/7015 | telomerase reverse transcriptase | 5p15.33 | Chr5, NC_000005.10 (1253167..1295068, complement) |
41902 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | WRAP53/55135 | WD repeat containing antisense to TP53 | 17p13.1 | Chr17, NC_000017.11 (7686071..7703502) |
17432 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | CTC1/80169 | CST telomere replication complex component 1 | 17p13.1 | Chr17, NC_000017.11 (8224815..8248056, complement) |
23242 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | RTEL1/51750 | regulator of telomere elongation helicase 1 | 20q13.33 | Chr20, NC_000020.11 (63657810..63696253) |
38444 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | PARN/5073 | poly(A)-specific ribonuclease | 16p13.12 | Chr16, NC_000016.10 (14435701..14630260, complement) |
194560 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | ACD/65057 | ACD shelterin complex subunit and telomerase recruitment factor | 16q22.1 | Chr16, NC_000016.10 (67657512..67660260, complement) |
2749 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | INPP4A/3631 | inositol polyphosphate-4-phosphatase type I A | 2q11.2 | Chr2, NC_000002.12 (98444587..98594392) |
149806 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | TYMS/7298 | thymidylate synthetase | 18p11.32 | Chr18, NC_000018.10 (657653..673578) |
15926 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | DCLRE1B/64858 | DNA cross-link repair 1B | 1p13.2 | Chr1, NC_000001.11 (113904619..113914086) |
9468 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |