Cancer Predisposition_Paediatric
Gene: NYNRINEnsemblGeneIds (GRCh38): ENSG00000205978
EnsemblGeneIds (GRCh37): ENSG00000205978
NYNRIN is in 3 panels
1 review
Laura Raiti (Royal Children's Hospital, Melbourne)
3 individuals with Wilms Tumour reported (2 children from 1 family, the 3rd child from a second family).
Biallelic truncating mutations in NYNRIN in three children with Wilms Tumour from two families, each parent was heterozygous for one of the mutations.
One of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability.
Sources: LiteratureCreated: 11 Jul 2021, 5:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- PMID: 30885698
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Wilms tumour predisposition
- Clinvar variants
- Variants in NYNRIN
- Penetrance
- None
- Publications
-
- PMID: 30885698
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nynrin has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NYNRIN were changed from to Wilms tumour predisposition
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nynrin has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Laura Raiti (Royal Children's Hospital, Melbourne)gene: NYNRIN was added gene: NYNRIN was added to Cancer Predisposition_Paediatric. Sources: Literature Mode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NYNRIN were set to PMID: 30885698 Review for gene: NYNRIN was set to AMBER