Transplant Co-Morbidity Superpanel
Gene: NBAS
NBAS (neuroblastoma amplified sequence)
EnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
- immunodeficiency
- short stature
- bone fragility
- developmental delay
- autism
- OMIM
- 608025
- Clinvar variants
- Variants in NBAS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Transplant Co-Morbidity Superpanel
- Growth failure
- Skeletal Dysplasia_Fetal
- Disorders of immune dysregulation
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Defects of intrinsic and innate immunity
- Prepair 1000+
- Liver Failure_Paediatric
- Osteogenesis Imperfecta and Osteoporosis
- Optic Atrophy
- Mendeliome
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NBAS was added gene: NBAS was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 29955634; 27789416 Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; immunodeficiency; short stature; bone fragility; developmental delay; autism