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  3. AP3B1
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Interstitial Lung Disease

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

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Over 10 unrelated families reported.
Well established gene-disease association.
Created: 29 Oct 2021, 1:54 a.m. | Last Modified: 29 Oct 2021, 1:54 a.m.
Panel Version: 0.78

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MIM# 603401; Hermansky–Pudlak syndrome (HPS2); Childhood pulmonary fibrosis

Publications

Created: 29 Oct 2021, 1:54 a.m.
Last Modified: 29 Oct 2021, 1:54 a.m.
Panel version: 0.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MIM# 603401
  • Hermansky–Pudlak syndrome (HPS2)
  • Childhood pulmonary fibrosis
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.

29 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).

29 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP3B1 were changed from to MIM# 603401; Hermansky–Pudlak syndrome (HPS2); Childhood pulmonary fibrosis

29 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP3B1 were set to

29 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP3B1 was added gene: AP3B1 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AP3B1 was set to Unknown