Cytopenia - NOT Fanconi anaemia
Gene: AP3B1
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Hermansky-Pudlak syndrome 2 (type 2 is associated with both thrombocytopenia and neutropenia as well as platelet-dense granule deficiency, impaired function of T cells, NK cells, hypopigmentation. Appears to be well established as a cause of neutropenia; North West GLH: Not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: Associated with thrombocytopenia and neutropenia - seem to be a major part of the phenotype so may present to haematology first.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Source Expert Review Amber was added to AP3B1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Expert review Amber was added to AP3B1.
Mode of inheritance for gene AP3B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hermansky-Pudlak syndrome 2, 608233 for gene: AP3B1
gene: AP3B1 was added gene: AP3B1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: AP3B1 was set to