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Mendeliome

Gene: NOP10

Amber List (moderate evidence)

NOP10 (NOP10 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000182117
EnsemblGeneIds (GRCh37): ENSG00000182117
OMIM: 606471, Gene2Phenotype
NOP10 is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Only 2 families reported, both with telomere shortening but variable phenotypes
PMID: 17507419 - consanguineous family with classical Dyskeratosis congenita (a multi-system bone marrow failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, leukoplakia and an increased predisposition to cancer). Homozygous c.100C>T p.Arg34Trp was identified in 3 affected siblings. Affected homozygous individuals have significant telomere shortening and reduced TERC levels. Reduced TERC levels also seen in in vitro assessment of the missense variant.
PMID: 32554502 - homozygous c.47C>T, p.Thr16Met identified in 2 children (distant cousins) with hearing impairment, cataract, nephrosis, and enterocolitis that died age 3 yrs. Telomere shortening was identified in both individuals. Only one of the cases was diagnosed with mild dyskeratosis after genetic diagnosis, but both cases died before the typical age of onset for the diagnostic triad of dyskeratosis congenita. In vitro assays demonstrated the variant alters the pseudouridylation pocket of the H/ACA snoRNP complex.
Created: 4 May 2023, 9:59 a.m. | Last Modified: 4 May 2023, 9:59 a.m.
Panel Version: 1.858

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Telomere syndrome MONDO:0100137

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID 32139460: large multiplex family with 4 affected individuals segregating a heterozygous variant.
Created: 4 Jun 2023, 4:23 a.m. | Last Modified: 4 Jun 2023, 4:23 a.m.
Panel Version: 1.932
Single family reported.
Created: 7 Dec 2019, 8:45 p.m. | Last Modified: 7 Dec 2019, 8:45 p.m.
Panel Version: 0.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 1, MIM#224230
  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400
OMIM
606471
Clinvar variants
Variants in NOP10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Telomere syndrome MONDO:0100137 to Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400

4 Jun 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NOP10 were set to 17507419; 32554502

4 Jun 2023, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 May 2023, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1, MIM#224230 to Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Telomere syndrome MONDO:0100137

4 May 2023, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NOP10 were set to 17507419

4 May 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nop10 has been classified as Amber List (Moderate Evidence).

7 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nop10 has been classified as Red List (Low Evidence).

7 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230

7 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NOP10 were set to

7 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nop10 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NOP10 was added gene: NOP10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOP10 was set to Unknown