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DDG2P

Gene: NHP2

Green List (high evidence)
NHP2 (NHP2 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000145912
EnsemblGeneIds (GRCh37): ENSG00000145912
OMIM: 606470, Gene2Phenotype
NHP2 is in 14 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for NHP2-related dyskeratosis congenita are moderate, biallelic_autosomal and loss of function (PMIDs: 18523010, 30472699, 31985013, 37440454). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01207.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease NHP2-related dyskeratosis congenita, OMIM:613987 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 37440454;30472699;18523010;31985013).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3
The DDG2P confidence category for the disease DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, OMIM:613987 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:18523010).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NHP2-related dyskeratosis congenita; NHP2-related dyskeratosis congenita, OMIM:613987; MONDO:0009136; OMIM:613987.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: NHP2 was changed from Other to None

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NHP2 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987 to NHP2-related dyskeratosis congenita, OMIM:613987

21 Feb 2025, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: NHP2 were set to 18523010

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to NHP2. Mode of pathogenicity for gene NHP2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: NHP2 was added gene: NHP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHP2 were set to 18523010 Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987 Mode of pathogenicity for gene: NHP2 was set to Other - please provide details in the comments