Growth failure
Gene: NBASEnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Founder mutation in Yakut population but also reported in other ethnicities. Short stature is a feature.
Note bi-allelic variants in this gene also cause infantile liver failure syndrome, MIM#616483. Clinical features 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, 12:40 a.m. | Last Modified: 16 Aug 2021, 12:42 a.m.
Panel Version: 0.141
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
- 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).
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 Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NBAS were set to 31761904
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NBAS was added gene: NBAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 31761904 Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800