Disorders of immune dysregulation
Gene: AP3D1
Now four affected individuals from two unrelated families, with a mouse model that recapitulates the human phenotype.Created: 28 Feb 2022, 6:25 a.m. | Last Modified: 28 Feb 2022, 6:25 a.m.
Panel Version: 0.104
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 10, MIM# 617050
Publications
Single family and a mouse model.
Sources: Expert listCreated: 5 Apr 2020, 2:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay
Publications
Publications for gene: AP3D1 were set to 26744459; 9697856
Gene: ap3d1 has been classified as Green List (High Evidence).
Gene: ap3d1 has been classified as Red List (Low Evidence).
gene: AP3D1 was added gene: AP3D1 was added to Disorders of immune dysregulation. Sources: 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 Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay Review for gene: AP3D1 was set to RED