Vascular skin disordersGene: AP3B1
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
Gene: ap3b1 has been classified as Red List (Low Evidence).
Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2
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