NBAS

NBAS subunit of NRZ tethering complex
OMIM: 608025, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green NBAS in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 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 2.0	1 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; Endocrine disorders Version 2.0	1 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 2.0	2 reviews	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 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Green NBAS in Defects of intrinsic and innate immunity Level 2: Immunological disorders Version 2.0	1 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 1.0	1 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 1.0	0 reviews	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 2.0	1 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 2.0	1 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 2.0	1 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 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#614800 Infantile liver failure syndrome 2, MIM#616483
Green NBAS in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	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