Disorders of immune dysregulation
Gene: NBASEnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 13 panels
2 reviews
Belinda Chong (Victorian Clinical Genetics Services)
35902954 - Biallelic NBAS variants identifed in three HLH patients who harbored no pathogenic variants in any of the known HLH genes. Functionally, impaired NK-cell cytotoxicity and degranulation were revealed in both NBAS biallelic variant patients and in an NBAS-defcient NK-cell line. Knockdown of NBAS in an NK-cell line (IMC-1) using short hairpin RNA (shRNA) resulted in loss of lytic granule polarization and a decreased number of cytotoxic vesicles near the Golgi apparatus.
Sources: LiteratureCreated: 1 Sep 2022, 7:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis (HLH)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 35902954 - Biallelic NBAS variants identifed in three HLH patients who harbored no pathogenic variants in any of the known HLH genes. Functionally, impaired NK-cell cytotoxicity and degranulation were revealed in both NBAS biallelic variant patients and in an NBAS-defcient NK-cell line. Knockdown of NBAS in an NK-cell line (IMC-1) using short hairpin RNA (shRNA) resulted in loss of lytic granule polarization and a decreased number of cytotoxic vesicles near the Golgi apparatus.Created: 1 Sep 2022, 10:13 a.m. | Last Modified: 1 Sep 2022, 10:13 a.m.
Panel Version: 1.304
PMID 31761904: a cohort of >100 individuals with bi-allelic NBAS variants. Based on the localization of missense variants and in-frame deletions, three clinical subgroups defined that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: β-propeller (combined phenotype), Sec39 (infantile liver failure syndrome type 2/ILFS2), and C-terminal (short stature, optic atrophy, and Pelger-Huët anomaly/SOPH).Created: 16 Aug 2021, 12:45 a.m. | Last Modified: 16 Aug 2021, 12:45 a.m.
Panel Version: 0.8830
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; Infantile liver failure syndrome 2, MIM# 616483; Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nbas has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NBAS were changed from Hemophagocytic lymphohistiocytosis (HLH) to Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nbas has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Belinda Chong (Victorian Clinical Genetics Services)gene: NBAS was added gene: NBAS was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 35902954 Phenotypes for gene: NBAS were set to Hemophagocytic lymphohistiocytosis (HLH) Review for gene: NBAS was set to GREEN gene: NBAS was marked as current diagnostic