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DDG2P

Gene: NOP10

Green List (high evidence)
NOP10 (NOP10 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000182117
EnsemblGeneIds (GRCh37): ENSG00000182117
OMIM: 606471, Gene2Phenotype
NOP10 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 NOP10-related dyskeratosis congenita are moderate, biallelic_autosomal and loss of function (PMID:17507419). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00165.
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 NOP10-related dyskeratosis congenita, OMIM:224230 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 17507419).
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 1, OMIM:224230 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:17507419).
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
MONDO:0009136; NOP10-related dyskeratosis congenita, OMIM:224230; OMIM:224230.0; NOP10-related dyskeratosis congenita

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: possible (for all listed disorders). Multiple MOPs in DD-G2P download: all missense/in frame and blank. No MOP listed for NOP10-RELATED DYSKERATOSIS CONGENITA 318811. Multiple MOIs in DD-G2P download: biallelic and blank. No MOI listed for NOP10-RELATED DYSKERATOSIS CONGENITA 318811.
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: NOP10 was changed from Other to None

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NOP10 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 224230; NOP10-RELATED DYSKERATOSIS CONGENITA 318811 to NOP10-related dyskeratosis congenita, OMIM:224230

21 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to NOP10. Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene NOP10 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes NOP10-RELATED DYSKERATOSIS CONGENITA 318811 for gene: NOP10

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: NOP10 was added gene: NOP10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOP10 were set to 17507419 Phenotypes for gene: NOP10 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 224230 Mode of pathogenicity for gene: NOP10 was set to Other - please provide details in the comments