Optic neuropathy

Gene: NBAS

Green List (high evidence)

NBAS (neuroblastoma amplified sequence)
EnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 12 panels

2 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:01 a.m. | Last Modified: 8 Mar 2022, 10:01 a.m.
Panel Version: 2.58
Comment on list classification: New gene added by Zornitza Stark. NBAS is associated with an appropriate phenotype in OMIM and probably associated with an appropriate phenotype in Gene2Phenotype.

PMID: 31015584 describes another unrelated case where patients has variant in NBAS and also had optic atrophy.

PMID: 31761904 is a study that looked at defining the spectrum of phenotypes related to NBAS. There are > 3 cases of individuals with variants in NBAS who have optic atropy.

Therefore, there is enough evidence for this gene to be Green. This gene will be made Green at the next major review.
Created: 13 Jul 2020, 1:59 p.m. | Last Modified: 13 Jul 2020, 1:59 p.m.
Panel Version: 2.8

Zornitza Stark (Australian Genomics)

Green List (high evidence)

This gene causes two recessive phenotypes: OA is not a feature of the infantile liver failure syndrome. It is however a consistent feature of the second condition: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800, which has predominantly been described in the Yakult.

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 and had OA. Second patient (also chet PTC/missense) had NO OA.

Remains to be seen whether OA is an association with specific variants in this gene, and what the underlying mechanism for this is.
Sources: Expert list
Created: 16 Apr 2020, 12:33 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
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
OMIM
608025
Clinvar variants
Variants in NBAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: NBAS.

8 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)

13 Jul 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).

13 Jul 2020, Gel status: 0

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nbas has been removed from the panel.

13 Jul 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: NBAS.

13 Jul 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NBAS were set to 20577004; 26286438

13 Jul 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800

16 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NBAS was added gene: NBAS was added to Optic neuropathy. Sources: Expert list Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 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