DTNBP1

dystrobrevin binding protein 1
OMIM: 607145, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DTNBP1 in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 1.12

1 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 1.63

1 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 1.3795

1 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

0 reviews 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 1.23

1 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 Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 7

Green DTNBP1 in Transplant Co-Morbidity


Level 2: Screening
Version 0.20

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0013559
  • Hermansky-Pudlak syndrome 7, MIM# 614076