DTNBP1

dystrobrevin binding protein 1
OMIM: 607145, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green DTNBP1 in Ocular and Oculocutaneous Albinism Level 2: Ophthalmological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 7, MIM# 614076 MONDO:0013559
Green DTNBP1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 7, MIM# 614076 MONDO:0013559
Green DTNBP1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 7, MIM# 614076 MONDO:0013559
Red DTNBP1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Hermansky-Pudlak syndrome 7
Green DTNBP1 in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS Genomic Medicine Service Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 7, MIM# 614076 MONDO:0013559
Red DTNBP1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 7
Green DTNBP1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0013559 Hermansky-Pudlak syndrome 7, MIM# 614076