NBAS

neuroblastoma amplified sequence
OMIM: 608025, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green NBAS in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification February 2018 IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Infantile liver failure syndrome 2, 616483 Defects in intrinsic and innate immunity Fever induced liver failure Defects in Intrinsic and Innate Immunity Fever induces liver failure
Green NBAS in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile liver failure syndrome 2, OMIM:616483
Red NBAS in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification December 2019 Expert Review Red IUIS Classification February 2018 Phenotypes Defects in Intrinsic and Innate Immunity Infantile liver failure syndrome 2, 616483 Fever induces liver failure Fever induced liver failure Defects in intrinsic and innate immunity
Green NBAS in Optic neuropathy Level 2: Ophthalmology Version 5.48 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Green NBAS in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Green NBAS in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
Green NBAS in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 bone fragility immunodeficiency developmental delay
Green NBAS in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green 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
Amber NBAS in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Green NBAS in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889
Green NBAS in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800