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  3. AP3D1
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Congenital nystagmus

Gene: AP3D1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Now four affected individuals from two unrelated families, with a mouse model that recapitulates the human phenotype.
Created: 28 Feb 2022, 7:25 a.m. | Last Modified: 28 Feb 2022, 7:25 a.m.
Panel Version: 1.4
Single family and a mouse model.
Created: 27 Oct 2021, 6:21 a.m. | Last Modified: 27 Oct 2021, 6:21 a.m.
Panel Version: 0.141

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

Created: 27 Oct 2021, 6:21 a.m.
Last Modified: 27 Oct 2021, 6:21 a.m.
Panel version: 1.4

Details

Mode of Inheritance
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
OMIM
607246
Clinvar variants
Variants in AP3D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP3D1 were set to 26744459; 9697856

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap3d1 has been classified as Green List (High Evidence).

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap3d1 has been classified as Red List (Low Evidence).

27 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP3D1 were changed from ?Hermansky-Pudlak syndrome 10 617050 AR to Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay

27 Oct 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP3D1 were set to

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap3d1 has been classified as Red List (Low Evidence).

6 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR for gene: AP3D1

6 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP3D1 was added gene: AP3D1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp 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