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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: AP3D1

Red List (low evidence)
AP3D1 (adaptor related protein complex 3 delta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000065000
EnsemblGeneIds (GRCh37): ENSG00000065000
OMIM: 607246, Gene2Phenotype
AP3D1 is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Severe neutropaenia
  • Recurrent infections
  • Neurodevelopmental delay
  • Seizures
  • Oculocutaneous albinism
  • Hermansky-Pudlak syndrome 10, MIM#617050
  • Hearing loss
OMIM
607246
Clinvar variants
Variants in AP3D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: AP3D1 was added gene: AP3D1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Red,Expert list Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3D1 were set to 26744459; 9697856 Phenotypes for gene: AP3D1 were set to Severe neutropaenia; Recurrent infections; Neurodevelopmental delay; Seizures; Oculocutaneous albinism; Hermansky-Pudlak syndrome 10, MIM#617050; Hearing loss