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  3. AP3B1
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Congenital nystagmus

Gene: AP3B1

Green List (high evidence)
AP3B1 (adaptor related protein complex 3 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000132842
EnsemblGeneIds (GRCh37): ENSG00000132842
OMIM: 603401, Gene2Phenotype
AP3B1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, oculo-cutaneous albinism and platelet defects. Nystagmus is a feature.
Created: 1 Jun 2021, 9:19 a.m. | Last Modified: 24 Oct 2021, 5:42 a.m.
Panel Version: 0.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997

Publications

Created: 1 Jun 2021, 9:19 a.m.
Last Modified: 24 Oct 2021, 5:42 a.m.
Panel version: Imported from Ocular and Oculocutaneous Albinism panel version 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 2, MIM# 608233
  • MONDO:0011997
Tags
treatable clinical trial
OMIM
603401
Clinvar variants
Variants in AP3B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Sep 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: AP3B1. Tag clinical trial tag was added to gene: AP3B1.

24 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap3b1 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 608233 AR to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997

24 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP3B1 were set to

6 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Hermansky-Pudlak syndrome 2 608233 AR for gene: AP3B1

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP3B1 was added gene: AP3B1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 AR