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Skeletal dysplasia

Gene: NBAS

Green List (high evidence)

NBAS (neuroblastoma amplified sequence)
EnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Created: 11 Dec 2019, 2:07 p.m. | Last Modified: 11 Dec 2019, 2:07 p.m.
Panel Version: 1.261

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
OMIM
608025
Clinvar variants
Variants in NBAS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

11 Dec 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NBAS were set to

11 Dec 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: NBAS was changed from to BIALLELIC, autosomal or pseudoautosomal

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NBAS was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NBAS was created by sleigh