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Fetal anomalies

Gene: NBAS

Green List (high evidence)

NBAS (neuroblastoma amplified sequence)
EnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
OMIM
608025
Clinvar variants
Variants in NBAS
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NBAS was added gene: NBAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBAS were set to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD