Gorlin Syndrome(Nevoid basal cell carcinoma syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Multisystemic 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 | PTCH1/5727 | patched 1 | 9q22.32 | Chr9, NC_000009.12 (95442980..95516971, complement) |
73992 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PTCH2/8643 | patched 2 | 1p34.1 | Chr1, NC_000001.11 (44819845..44843253, complement) |
23409 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SUFU/51684 | SUFU negative regulator of hedgehog signaling | 10q24.32 | Chr10, NC_000010.11 (102502819..102633535) |
130717 nt | 17 | 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 | ||||||||
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Clinical Symptoms & Disabilities