Uncombable Hair Syndrome(Pili trianguli et canaliculi) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Hair disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Hair 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 | TCHH/7062 | trichohyalin | 1q21.3 | Chr1, NC_000001.11 (152106317..152115444, complement) |
9128 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TGM3/7053 | transglutaminase 3 | 20p13 | Chr20, NC_000020.11 (2296001..2341079) |
45079 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PADI3/51702 | peptidyl arginine deiminase 3 | 1p36.13 | Chr1, NC_000001.11 (17249098..17284233) |
35136 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
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Clinical Symptoms & Disabilities