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| 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 | 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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