Neuroblastoma
Gene: SMARCA4EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 16 panels
1 review
Chirag Patel (Genetic Health Queensland)
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, LiteratureCreated: 12 Sep 2024, 2:25 a.m. | Last Modified: 12 Sep 2024, 2:27 a.m.
Panel Version: 0.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuroblastoma, MONDO:0005072; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; Rhabdoid tumor predisposition syndrome 2, MIM#613325
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Expert Review
- Phenotypes
-
- Neuroblastoma, MONDO:0005072
- Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
- Rhabdoid tumor predisposition syndrome 2, MIM#613325
- OMIM
- 603254
- Clinvar variants
- Variants in SMARCA4
- Penetrance
- None
- Panels with this gene
-
- Neuroblastoma
- Schwannoma
- Clefting disorders
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Hand and foot malformations
- Deafness_Isolated
- Fetal anomalies
- Congenital Heart Defect
- Mendeliome
- Congenital diaphragmatic hernia
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smarca4 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: smarca4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)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