NBAS

neuroblastoma amplified sequence
OMIM: 608025
PanelMode of inheritanceDetails
7 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile liver failure syndrome 2, OMIM:616483
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD, ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
R-numbers: R147
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
R-numbers: R41
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
R-numbers: R102
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800, bone fragility, immunodeficiency, developmental delay
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800