Trichothiodystrophy 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 | MPLKIP/136647 | M-phase specific PLK1 interacting protein | 7p14.1 | Chr7, NC_000007.14 (40126027..40134622, complement) |
8596 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GTF2H5/404672 | general transcription factor IIH subunit 5 | 6q25.3 | Chr6, NC_000006.12 (158168350..158199344) |
30995 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | 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 |
| 4 | 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 |
| 5 | RNF113A/7737 | ring finger protein 113A | Xq24 | ChrX, NC_000023.11 (119870475..119871733, complement) |
1259 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | GTF2E2/2961 | general transcription factor IIE subunit 2 | 8p12 | Chr8, NC_000008.11 (30578318..30658236, complement) |
79919 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | TARS1/6897 | threonyl-tRNA synthetase 1 | 5p13.3 | Chr5, NC_000005.10 (33440696..33468091) |
27396 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | AARS1/16 | alanyl-tRNA synthetase 1 | 16q22.1 | Chr16, NC_000016.10 (70252298..70289506, complement) |
37209 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |