Cytopenia - NOT Fanconi anaemia
Gene: NBN
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 5:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
251260 Nijmegen breakage syndrome
Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.Created: 22 Jul 2019, noon | Last Modified: 22 Jul 2019, noon
Panel Version: 0.66
Discrepant reviews for NBN:Rated as Green by WWMGLH, NWGLH - Amber rating by YNEGLH, LSGLH. To be discussed at July workshop to agree rating. As noted by LSGLH -not sure if this should be in Cytopenia panel – would this not be picked up on chromosome breakage? Then better to go for the single gene test R259.Created: 22 Jul 2019, 11:58 a.m. | Last Modified: 22 Jul 2019, noon
Panel Version: 0.66
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBN; Suggested initial gene rating: not submitted ; Are variants in this gene part of your current diagnostic practice? info not submitted; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 251260 Nijmegen breakage syndrome; PMID(s): none submittedCreated: 14 Feb 2019, 5:40 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBN; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065;Nijmegen breakage syndrome, 251260; PMID(s): 11325820;15338273; Comments: Also exists as a single gene testCreated: 6 Feb 2019, 3:13 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 3:12 p.m.
Gene: nbn has been classified as Amber List (Moderate Evidence).
Added phenotypes 251260 Nijmegen breakage syndrome for gene: NBN
Source Yorkshire and North East GLH was added to NBN.
Source NHS GMS was added to NBN.
Source Expert Review Green was added to NBN. Mode of inheritance for gene NBN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065; Nijmegen breakage syndrome, 251260 for gene: NBN Publications for gene NBN were changed from to 15338273; 11325820 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: NBN was added gene: NBN was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: NBN was set to