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  2. Osteogenesis Imperfecta and Osteoporosis
  3. NBAS
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Osteogenesis Imperfecta and Osteoporosis

Gene: NBAS

Green List (high evidence)
NBAS (neuroblastoma amplified sequence)
EnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 13 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three compound heterozygous cases with an OI multi-system phenotype.
Sources: NHS GMS
Created: 2 Apr 2020, 7:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
short stature; bone fragility; developmental delay; immunodeficiency; autism

Publications

Created: 2 Apr 2020, 7:43 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • short stature
  • bone fragility
  • developmental delay
  • immunodeficiency
  • autism
  • 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

History Filter Activity

26 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nbas has been classified as Green List (High Evidence).

26 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NBAS were changed from short stature; bone fragility; developmental delay; immunodeficiency; autism to short stature; bone fragility; developmental delay; immunodeficiency; autism; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800

2 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nbas has been classified as Green List (High Evidence).

2 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NBAS was added gene: NBAS was added to Osteogenesis Imperfecta. Sources: NHS GMS Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 27789416; 29955634 Phenotypes for gene: NBAS were set to short stature; bone fragility; developmental delay; immunodeficiency; autism Review for gene: NBAS was set to GREEN