NBAS

neuroblastoma amplified sequence
OMIM: 608025, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green NBAS in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly - MIM#614800
Green NBAS in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800 Infantile liver failure syndrome 2, MIM# 616483 Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Green NBAS in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 0.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes short stature bone fragility developmental delay immunodeficiency autism Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
Green NBAS in Optic Atrophy Level 2: Ophthalmological disorders Version 1.32 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Green NBAS in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Green NBAS in Defects of innate immunity Level 2: Immunological disorders Version 0.134 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800 Infantile liver failure syndrome 2 MIM#616483
Green NBAS in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Green NBAS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
Green NBAS in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Infantile liver failure syndrome 2, MIM# 616483
Green NBAS in Growth failure Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
Green NBAS in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM#614800) bone fragility developmental delay immunodeficiency autism
Green NBAS in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
Green NBAS in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800 immunodeficiency short stature bone fragility developmental delay autism