Skeletal Dysplasia_Fetal
Gene: NBASEnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 13 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Antenatal detection of limb shortening has been reported.
Sources: Expert list, LiteratureCreated: 30 Sep 2022, 12:55 a.m.
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
- Literature
- Expert list
- 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).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: NBAS was added gene: NBAS was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 33042920 Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly - MIM#614800 Review for gene: NBAS was set to GREEN