PanelApp (staging)
  1. Genes and Genomic Entities
  2. AP3D1

AP3D1

adaptor related protein complex 3 delta 1 subunit
OMIM: 607246, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber AP3D1 in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 1.11

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Literature
  • Expert Review
Phenotypes
  • Hermansky-Pudlak syndrome 10, MIM# 617050

Green AP3D1 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hermansky-Pudlak syndrome 10, MIM# 617050
  • Oculocutaneous albinism
  • Severe neutropaenia
  • Recurrent infections
  • Seizures
  • Hearing loss
  • Neurodevelopmental delay

Amber AP3D1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hermansky-Pudlak syndrome 10, MIM# 617050

    Green AP3D1 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.5

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hermansky-Pudlak syndrome 10, MIM# 617050
    • Oculocutaneous albinism
    • Severe neutropaenia
    • Recurrent infections
    • Seizures
    • Hearing loss
    • Neurodevelopmental delay

    Green AP3D1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS Genomic Medicine Service
    Phenotypes
    • Hermansky-Pudlak syndrome 10, MIM# 617050
    • Oculocutaneous albinism
    • Severe neutropaenia
    • Recurrent infections
    • Seizures
    • Hearing loss
    • Neurodevelopmental delay

    Amber AP3D1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Hermansky-Pudlak syndrome 10, MIM# 617050
    Tags
    • treatable
    • haematological