| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Basal Cell Cancer v1.1 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.7 | Zornitza Stark Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.6 | PTCH2 | Zornitza Stark Marked gene: PTCH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.6 | PTCH2 | Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.6 | SUFU | Zornitza Stark Marked gene: SUFU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.6 | SUFU | Zornitza Stark Gene: sufu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.6 | PTCH1 | Zornitza Stark Marked gene: PTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.6 | PTCH1 | Zornitza Stark Gene: ptch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.6 | PTCH2 |
Chirag Patel gene: PTCH2 was added gene: PTCH2 was added to Basal Cell Cancer. Sources: Literature,Expert Review Mode of inheritance for gene: PTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH2 were set to PMID: 34170463, 18285427, 23479190, 30820324, 38354379 Phenotypes for gene: PTCH2 were set to Basal cell carcinoma, MONDO:0020804; Nevoid basal cell carcinoma syndrome, MONDO:0007187 Review for gene: PTCH2 was set to RED Added comment: A number of case/family reports have proposed PTCH2 as a putative Gorlin Syndrome (GS) gene, but evidence to support this is lacking. PMID: 34170463 paper found no pathogenic or likely pathogenic PTCH2 variants in cohort of 21 PTCH1/SUFU negative GS families. They assessed evidence from reported cases/families with PTCH2 variants, and determined that none of the previously published PTCH2 variants in GS families/cases could be considered pathogenic or likely pathogenic using current guidelines. There is also a high frequency of Loss-of-function (LoF) variants in the general population, including the presence of homozygous LoF variants without a clinical phenotype. Sources: Literature, Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.5 | SUFU | Chirag Patel Classified gene: SUFU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.5 | SUFU | Chirag Patel Gene: sufu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.4 | SUFU |
Chirag Patel gene: SUFU was added gene: SUFU was added to Basal Cell Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUFU were set to PMID: 20301330 Phenotypes for gene: SUFU were set to Basal cell carcinoma, MONDO:0020804; Basal cell nevus syndrome 2, MONDO:0958189; Basal cell nevus syndrome 2, MIM#620343; Meningioma, familial, susceptibility to, MIM#607174; Medulloblastoma predisposition syndrome, MIM#155255 Review for gene: SUFU was set to GREEN Added comment: Established gene-disease association with basal cell nevus syndrome (also known as Gorlin syndrome). Basal cell cancers reported in condition. ClinGen definitive for medulloblastoma. Sources: Expert list, Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.3 | PTCH1 |
Chirag Patel changed review comment from: ClinGen definitive Basal cell cancers reported in condition Sources: Expert list, Expert Review; to: ClinGen definitive. Basal cell cancers reported in condition Sources: Expert list, Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.3 | PTCH1 | Chirag Patel Classified gene: PTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.3 | PTCH1 | Chirag Patel Gene: ptch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.2 | PTCH1 | Chirag Patel Classified gene: PTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.2 | PTCH1 | Chirag Patel Gene: ptch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.1 | PTCH1 |
Chirag Patel gene: PTCH1 was added gene: PTCH1 was added to Basal Cell Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Basal cell carcinoma, MONDO:0020804; Basal cell nevus syndrome 1, MONDO:0958174; Basal cell nevus syndrome 1, MIM#109400 Review for gene: PTCH1 was set to GREEN Added comment: ClinGen definitive Basal cell cancers reported in condition Sources: Expert list, Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.0 |
Chirag Patel Added Panel Basal Cell Cancer Set panel types to: Cancer Germline |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||