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  3. NBAS
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Growth failure in early childhood

Gene: NBAS

Green List (high evidence)
NBAS (neuroblastoma amplified sequence)
EnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 11 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.
Panel Version: 1.100
There are >3 unrelated cases of patients with variants in NBAS who has short stature. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. This gene has been given an Amber review and tagged with "for-review" for the next major update of this panel.
Sources: Expert list
Created: 10 Aug 2020, 3:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800

Publications

Created: 10 Aug 2020, 3:15 p.m.

Panel version: 1.100

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800
OMIM
608025
Clinvar variants
Variants in NBAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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, OMIM:614800

3 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: NBAS.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to NBAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nbas has been classified as Amber List (Moderate Evidence).

10 Aug 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: NBAS was added gene: NBAS was added to Growth failure in early childhood. Sources: Expert list for-review tags were added to gene: NBAS. 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 Review for gene: NBAS was set to AMBER