Cholestasis
Gene: NBAS
Depending on location of pathogenic missense variant the presentation varies and can present as infantile liver failure which is not covered by any other panel within Gastrohepatology so could sit under Cholestasis panel. Agree with GMS decision to upgrade to greeenCreated: 18 Jan 2022, 5:27 p.m. | Last Modified: 18 Jan 2022, 5:27 p.m.
Panel Version: 1.100
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile liver failure syndrome 2
Publications
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
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
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: LiteratureCreated: 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
Tag for-review was removed from gene: NBAS. Tag Q1_22_NHS_review was removed from gene: NBAS.
Source Expert Review Green was added to NBAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: NBAS.
Phenotypes for gene: NBAS were changed from Infantile liver failure syndrome 2, 616483 to Infantile liver failure syndrome 2, OMIM:616483
Publications for gene: NBAS were set to 26541327, 28629372, 30622725, 26073778, 32146038, 31761904
Gene: nbas has been classified as Amber List (Moderate Evidence).
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