Cholestasis

Gene: NBAS

Amber List (moderate evidence)

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

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Episodic acute liver failure rather than cholestasis.
Created: 9 Aug 2020, 6:38 a.m. | Last Modified: 9 Aug 2020, 6:38 a.m.
Panel Version: 1.16

Ivone Leong (Genomics England Curator)

I don't know

After consultation with the Genomics Clinical Team this gene has been left on this panel for the following reason:
"Helen Brittain (Genomics England):
Infantile liver failure: the evidence for this seems good. It doesn't clearly map to any of our panels or the GMS indications. The closest would probably be cholestasis. I think it is worth adding there as amber, for expert phenotypic review in the next GMS iteration."
Created: 30 Oct 2020, 8:48 a.m. | Last Modified: 30 Oct 2020, 8:48 a.m.
Panel Version: 1.60
There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. 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: Literature
Created: 4 Aug 2020, 3:12 p.m. | Last Modified: 30 Oct 2020, 8:47 a.m.
Panel Version: 1.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile liver failure syndrome 2, 616483

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Infantile liver failure syndrome 2, 616483
Tags
for-review
OMIM
608025
Clinvar variants
Variants in NBAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2020, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NBAS were set to 26541327, 28629372, 30622725, 26073778, 32146038, 31761904

4 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).

4 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 Cholestasis. Sources: Literature 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 26541327, 28629372, 30622725, 26073778, 32146038, 31761904 Phenotypes for gene: NBAS were set to Infantile liver failure syndrome 2, 616483 Review for gene: NBAS was set to AMBER