Rare anaemia
Gene: NHP2
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: NHP2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613987 Dyskeratosis congenita, autosomal recessive 2; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 p.m.
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, 4:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
613987 Dyskeratosis congenita, autosomal recessive 2
Mode of inheritance for gene: NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: nhp2 has been classified as Amber List (Moderate Evidence).
Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2
Source NHS GMS was added to NHP2.
gene: NHP2 was added gene: NHP2 was added to Rare anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: NHP2 was set to