This Panel is marked as Retired
TCGA_PANCAN_2018
Gene: NBN
NBN (nibrin)
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 19 panels
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Details
- Mode of Inheritance
- Other
- Sources
-
- TCGA_PANCAN_2018
- Phenotypes
-
- Microcephaly, normal intelligence and immunodeficiency
- 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
8 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Lavinia Gordon (UMCCR)gene: NBN was added gene: NBN was added to TCGA_PANCAN_2018. Sources: TCGA_PANCAN_2018 Mode of inheritance for gene: NBN was set to Other Phenotypes for gene: NBN were set to Microcephaly, normal intelligence and immunodeficiency