| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Neuroblastoma v1.1 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.7 | Zornitza Stark Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.6 | SMARCA4 | Zornitza Stark Marked gene: SMARCA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.6 | SMARCA4 | Zornitza Stark Gene: smarca4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.6 | PHOX2B | Zornitza Stark Marked gene: PHOX2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.6 | PHOX2B | Zornitza Stark Gene: phox2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.6 | ALK | Zornitza Stark Marked gene: ALK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.6 | ALK | Zornitza Stark Gene: alk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.6 | SMARCA4 |
Chirag Patel changed review comment from: ClinGen definitive for RTPS2 11 patients with neuroblastoma (age of diagnosis from 2 months-26 years) with heterozygous germline variants in SMARCA4. Eight of the germline variants were expected to result in loss of function of SMARCA4 (large deletion, truncating and canonical splice variants), while the remaining four were missense variants. Loss of heterozygosity of the wild-type SMARCA4 allele was found in all eight cases where somatic testing was performed, supporting the notion that SMARCA4 functions as a classic tumour suppressor. Sources: Expert Review, Literature; to: ClinGen definitive for RTPS2 11 patients with neuroblastoma (age of diagnosis from 2 months-26 years) with heterozygous germline variants in SMARCA4. Eight of the germline variants were expected to result in loss of function of SMARCA4 (large deletion, truncating and canonical splice variants), while the remaining four were missense variants. Loss of heterozygosity of the wild-type SMARCA4 allele was found in all eight cases where somatic testing was performed, supporting the notion that SMARCA4 functions as a classic tumour suppressor. Sources: Expert Review, Literature |
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| Neuroblastoma v0.6 | SMARCA4 | Chirag Patel Classified gene: SMARCA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.6 | SMARCA4 | Chirag Patel Gene: smarca4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.5 | SMARCA4 |
Chirag Patel gene: SMARCA4 was added gene: SMARCA4 was added to Neuroblastoma. Sources: Expert Review,Literature Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMARCA4 were set to Neuroblastoma, MONDO:0005072; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; Rhabdoid tumor predisposition syndrome 2, MIM#613325 Review for gene: SMARCA4 was set to AMBER Added comment: ClinGen definitive for RTPS2 11 patients with neuroblastoma (age of diagnosis from 2 months-26 years) with heterozygous germline variants in SMARCA4. Eight of the germline variants were expected to result in loss of function of SMARCA4 (large deletion, truncating and canonical splice variants), while the remaining four were missense variants. Loss of heterozygosity of the wild-type SMARCA4 allele was found in all eight cases where somatic testing was performed, supporting the notion that SMARCA4 functions as a classic tumour suppressor. Sources: Expert Review, Literature |
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| Neuroblastoma v0.4 | PHOX2B | Chirag Patel Classified gene: PHOX2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.4 | PHOX2B | Chirag Patel Gene: phox2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.3 | PHOX2B |
Chirag Patel gene: PHOX2B was added gene: PHOX2B was added to Neuroblastoma. Sources: Expert list,Expert Review Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHOX2B were set to PMID: 17637745 Phenotypes for gene: PHOX2B were set to Neuroblastoma, MONDO:0005072; Neuroblastoma susceptibility to 2, MONDO:0700041; Neuroblastoma, susceptibility to, 2, MIM#613013; Neuroblastoma with Hirschsprung disease, MIM #613013 Review for gene: PHOX2B was set to GREEN Added comment: ClinGen definitive Sources: Expert list, Expert Review |
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| Neuroblastoma v0.2 | ALK | Chirag Patel Classified gene: ALK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.2 | ALK | Chirag Patel Gene: alk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuroblastoma v0.1 | ALK |
Chirag Patel gene: ALK was added gene: ALK was added to Neuroblastoma. Sources: Expert list,Expert Review Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALK were set to PMID: 18724359 Phenotypes for gene: ALK were set to Neuroblastoma, MONDO:0005072; Neuroblastoma susceptibility to 3, MONDO:0013083; Neuroblastoma, susceptibility to, 3, MIM#613014 Review for gene: ALK was set to GREEN Added comment: ClinGen definitive Sources: Expert list, Expert Review |
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| Neuroblastoma v0.0 |
Chirag Patel Added Panel Neuroblastoma Set panel types to: Cancer Germline |
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