Optic Atrophy
Gene: NBASEnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Also note individuals in DECIPHER with eye phenotypes and bi-allelic variants but unpublished and also unclear if optic atrophy. Borderline Green/Amber for optic atrophy.Created: 9 Apr 2020, 7:12 a.m. | Last Modified: 9 Apr 2020, 7:12 a.m.
Panel Version: 0.50
Elena Savva (Victorian Clinical Genetics Services)
PMID: 20577004 - Study of 30 Yakut families found ALL had OA, 33/34 patients had the same homozygous missense*, founder very likely
PMID: 26286438 - 1 patient chet for a PTC and missense w/ AO. Second patient (also chet PTC/missense) had NO OA
Sources: Expert ReviewCreated: 9 Apr 2020, 6:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly
- 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
Elena Savva (Victorian Clinical Genetics Services)gene: NBAS was added gene: NBAS was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to PMID: 20577004; 26286438 Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly Review for gene: NBAS was set to GREEN