Sarcoma soft tissue
Gene: NBNEnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 19 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Soft-tissue sarcomas reported in condition.
Sources: Expert list, Expert ReviewCreated: 17 Sep 2024, 10:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Nijmegen breakage syndrome, MONDO:0009623; Nijmegen breakage syndrome, MIM#251260
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Soft tissue sarcoma, MONDO:0018078
- Sarcoma, MONDO:0005089
- Nijmegen breakage syndrome, MONDO:0009623
- Nijmegen breakage syndrome, MIM#251260
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Chromosome Breakage Disorders
- Clefting disorders
- Prepair 1000+
- Microcephaly
- Incidentalome_PREGEN_DRAFT
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nbn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: nbn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: NBN was added gene: NBN was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBN were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Nijmegen breakage syndrome, MONDO:0009623; Nijmegen breakage syndrome, MIM#251260 Review for gene: NBN was set to GREEN