Xeroderma Pigmentosum Explore Disorder's Alias
An Autosomal recessive mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal recessive 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 | XPC/7508 | XPC complex subunit, DNA damage recognition and repair factor | 3p25.1 | Chr3, NC_000003.12 (14145147..14178601, complement) |
33455 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | XPA/7507 | XPA, DNA damage recognition and repair factor | 9q22.33 | Chr9, NC_000009.12 (97654398..97697340, complement) |
42943 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | POLH/5429 | DNA polymerase eta | 6p21.1 | Chr6, NC_000006.12 (43576185..43620523) |
44339 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | DDB2/1643 | damage specific DNA binding protein 2 | 11p11.2 | Chr11, NC_000011.10 (47214454..47239217) |
24764 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | ERCC5/2073 | ERCC excision repair 5, endonuclease | 13q33.1 | Chr13, NC_000013.11 (102846032..102875995) |
29964 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | ERCC4/2072 | ERCC excision repair 4, endonuclease catalytic subunit | 16p13.12 | Chr16, NC_000016.10 (13920154..13952348) |
32195 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | ERCC3/2071 | ERCC excision repair 3, TFIIH core complex helicase subunit | 2q14.3 | Chr2, NC_000002.12 (127257290..127294144, complement) |
36855 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | ERCC2/2068 | ERCC excision repair 2, TFIIH core complex helicase subunit | 19q13.32 | Chr19, NC_000019.10 (45349837..45370573, complement) |
20737 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |