Genomics England

NBAS

neuroblastoma amplified sequence

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	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 4.15	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Green in Osteogenesis imperfecta R-numbers: R102 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800, bone fragility, immunodeficiency, developmental delay
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800, short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800