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Cytopenias and congenital anaemias

Gene: NHP2

Green List (high evidence)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: With addition of the recent paper (PMID:31985013), there are now a total of 3 unrelated cases with dyskeratosis congenita due to biallelic variants in NHP2, as well as supportive in vitro data.

Cases now reach threshold for inclusion and therefore, the rating for NHP2 has been promoted from Amber to Green.
Created: 30 Sep 2020, 12:19 p.m. | Last Modified: 30 Sep 2020, 12:19 p.m.
Panel Version: 1.77
PMID: 31985013 (2020) - Recent paper describing the third case with compound het missense variants (c.182G>C and c.259C>T) in the NHP2 gene. The patient presented with Høyeraal–Hreidarsson syndrome, the severe form of DC, which included features of GDD, microcephaly, cerebellar hypoplasia, lymphopenia, and the triad of nail dysplasia, skin pigmentation, and oral leukoplakia.
Created: 30 Sep 2020, 12:15 p.m. | Last Modified: 30 Sep 2020, 12:15 p.m.
Panel Version: 1.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 2, 613987

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable G2P. At least 3 variants reported in two cases, supporting in vitro data provided.
Created: 9 Mar 2017, 12:25 p.m.
Comment on phenotypes: Inherited Bone Marrow Failure Syndromes
Created: 9 Mar 2017, 12:22 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 2, 613987
OMIM
606470
Clinvar variants
Variants in NHP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nhp2 has been classified as Green List (High Evidence).

30 Sep 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NHP2 were changed from Dyskeratosis congenita, autosomal recessive 2 613987 to Dyskeratosis congenita, autosomal recessive 2, 613987

30 Sep 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NHP2 were set to 18523010

11 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Mar 2017, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NHP2 were set to 18523010

9 Mar 2017, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NHP2 were set to Dyskeratosis congenita, autosomal recessive 2 613987

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

NHP2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

NHP2 was created by LouiseD