Albinism or congenital nystagmus

Gene: AP3D1

Amber List (moderate evidence)

AP3D1 (adaptor related protein complex 3 delta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000065000
EnsemblGeneIds (GRCh37): ENSG00000065000
OMIM: 607246, Gene2Phenotype
AP3D1 is in 7 panels

1 review

Jonathan Callaway (Wessex Regional Genetics Laboratory)

I don't know

Limited evidence available. Comments from OMIM: Only one patient is recorded. Comments from HGMDpro: Only 4 variants in total; only 1 of these has Hermansky-Pudlak syndrome as the reported phenotype (a frameshift variant)
Created: 20 Mar 2019, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

?Hermansky-Pudlak syndrome 10 617050 AR


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • ?Hermansky-Pudlak syndrome 10 617050 AR
Clinvar variants
Variants in AP3D1
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 AP3D1. Added phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR for gene: AP3D1 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: AP3D1 was added gene: AP3D1 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3D1 were set to ?Hermansky-Pudlak syndrome 10 617050 AR