Vascular skin disorders

Gene: AP3B1

Red List (low evidence)

AP3B1 (adaptor related protein complex 3 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000132842
EnsemblGeneIds (GRCh37): ENSG00000132842
OMIM: 603401, Gene2Phenotype
AP3B1 is in 14 panels

1 review

Catherine Snow (Genomics England)

I don't know

Comment on list classification: Rating as Red as advised by Tom Cullup @ GOSH as "Hermansky-Pudlak syndrome is covered elsewhere in test directory".
Created: 11 Dec 2019, 8:08 p.m. | Last Modified: 11 Dec 2019, 8:08 p.m.
Panel Version: 0.33
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:AP3B1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.13

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ap3b1 has been classified as Red List (Low Evidence).

11 Dec 2019, Gel status: 2

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: AP3B1 was added gene: AP3B1 was added to Vascular skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal