Cancer Predisposition_Paediatric
Gene: DIS3L2EnsemblGeneIds (GRCh38): ENSG00000144535
EnsemblGeneIds (GRCh37): ENSG00000144535
OMIM: 614184, Gene2Phenotype
DIS3L2 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Increased risk of Wilms tumour.
Sources: Expert listCreated: 1 Aug 2020, 7:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perlman syndrome, MIM# 267000
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Perlman syndrome, MIM# 267000
- OMIM
- 614184
- Clinvar variants
- Variants in DIS3L2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dis3l2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dis3l2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DIS3L2 was added gene: DIS3L2 was added to Cancer Predisposition_Paediatric. Sources: Expert list Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DIS3L2 were set to Perlman syndrome, MIM# 267000 Review for gene: DIS3L2 was set to GREEN