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  2. Ocular and Oculocutaneous Albinism
  3. DTNBP1
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Ocular and Oculocutaneous Albinism

Gene: DTNBP1

Green List (high evidence)
DTNBP1 (dystrobrevin binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000047579
EnsemblGeneIds (GRCh37): ENSG00000047579
OMIM: 607145, Gene2Phenotype
DTNBP1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 unrelated families reported.
Created: 1 Jun 2021, 10:51 a.m. | Last Modified: 1 Jun 2021, 10:51 a.m.
Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559

Publications

Created: 1 Jun 2021, 10:51 a.m.
Last Modified: 1 Jun 2021, 10:51 a.m.
Panel version: 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 7, MIM# 614076
  • MONDO:0013559
OMIM
607145
Clinvar variants
Variants in DTNBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dtnbp1 has been classified as Green List (High Evidence).

1 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559

1 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DTNBP1 were set to

1 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DTNBP1 was added gene: DTNBP1 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DTNBP1 was set to Unknown