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  2. Albinism or congenital nystagmus
  3. DTNBP1
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Albinism or congenital nystagmus

Gene: DTNBP1

Amber List (moderate evidence)
DTNBP1 (dystrobrevin binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000047579
EnsemblGeneIds (GRCh37): ENSG00000047579
OMIM: 607145, Gene2Phenotype
DTNBP1 is in 4 panels

1 review

Jonathan Callaway (Wessex Regional Genetics Laboratory)

I don't know

Limited evidence available. Comments from HGMDpro: Only 5 variants in total; only 2 of these have Hermansky-Pudlak syndrome and 1 has albinism as the reported phenotype (nonsense or frameshift)
Created: 20 Mar 2019, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 7 614076 AR

Created: 20 Mar 2019, 4:11 p.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hermansky-Pudlak syndrome 7 614076 AR
OMIM
607145
Clinvar variants
Variants in DTNBP1
Penetrance
None
Panels with this gene

History Filter Activity

20 Mar 2019, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to DTNBP1. Added phenotypes Hermansky-Pudlak syndrome 7 614076 AR for gene: DTNBP1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

20 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: DTNBP1 was added gene: DTNBP1 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7 614076 AR