Rare anaemia

Gene: NHP2

Amber List (moderate evidence)

NHP2 (NHP2 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000145912
EnsemblGeneIds (GRCh37): ENSG00000145912
OMIM: 606470, Gene2Phenotype
NHP2 is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 submitted
Created: 14 Feb 2019, 4:05 p.m.

Mandy nesbitt (Healthcare Professional)

I don't know

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

History Filter Activity

18 Feb 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal

18 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: nhp2 has been classified as Amber List (Moderate Evidence).

14 Feb 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2

14 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NHP2.

14 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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