Disorders of immune dysregulation
Gene: NBAS
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
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
Gene: nbas has been classified as Green List (High Evidence).
Phenotypes for gene: NBAS were changed from Hemophagocytic lymphohistiocytosis (HLH) to Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Gene: nbas has been classified as Green List (High Evidence).
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