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  3. NYNRIN
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Childhood solid tumours

Gene: NYNRIN

Amber List (moderate evidence)
NYNRIN (NYN domain and retroviral integrase containing)
EnsemblGeneIds (GRCh38): ENSG00000205978
EnsemblGeneIds (GRCh37): ENSG00000205978
NYNRIN is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. The NYNRIN gene is currently not listed in OMIM or G2P.

Mahamdallie et al. 2019 (PMID: 30885698) report 2 families with 3 affected children with Wilms tumour who harboured distinct compound het protein-truncating variants in this gene. To date, there have been no further reports linking NYNRIN with disease and little is known about its functions. Rating Amber as two families have been identified but additional cases/functional evidence are required to validate pathogenicity.
Created: 12 Aug 2021, 10:15 a.m. | Last Modified: 12 Aug 2021, 10:15 a.m.
Panel Version: 2.23
Created: 12 Aug 2021, 10:15 a.m.
Last Modified: 12 Aug 2021, 10:15 a.m.
Panel version: 2.23

Zornitza Stark (Australian Genomics)

I don't know

3 individuals with Wilms Tumour reported from two families and bi-allelic truncating variants.

One of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability.
Sources: Literature
Created: 7 Aug 2021, 1:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilms tumour

Publications

Created: 7 Aug 2021, 1:43 a.m.

Panel version: 2.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Wilms tumour
Clinvar variants
Variants in NYNRIN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

7 Aug 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NYNRIN was added gene: NYNRIN was added to Tumour predisposition - childhood onset. Sources: Literature Mode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NYNRIN were set to 30885698 Phenotypes for gene: NYNRIN were set to Wilms tumour Review for gene: NYNRIN was set to AMBER