Cytopenia - NOT Fanconi anaemia
Gene: TCN2
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: Transcobalamin II deficiency - megaloblastic anaemia and pancytopenia; North West GLH: Syndromic; Yorkshire and North East GLH: no comment submitted; London South GLH: This gene is frequently requested, it is quite a specific phenotype - this gene is on R92 so think reasonable to keep it on this panel too.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 TCN2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Expert review Amber was added to TCN2.
Mode of inheritance for gene TCN2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Transcobalamin II deficiency, 275350 for gene: TCN2
gene: TCN2 was added gene: TCN2 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: TCN2 was set to