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  2. Wilms Tumour
  3. DIS3L2
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Wilms Tumour

Gene: DIS3L2

Green List (high evidence)
DIS3L2 (DIS3 like 3'-5' exoribonuclease 2)
EnsemblGeneIds (GRCh38): ENSG00000144535
EnsemblGeneIds (GRCh37): ENSG00000144535
OMIM: 614184, Gene2Phenotype
DIS3L2 is in 13 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert Review
Created: 26 Sep 2024, 12:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilms tumor, MONDO:0006058; Perlman syndrome, MONDO:0009965; Perlman syndrome, MIM#267000

Created: 26 Sep 2024, 12:49 a.m.

Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Wilms tumor, MONDO:0006058
  • Perlman syndrome, MONDO:0009965
  • Perlman syndrome, MIM#267000
OMIM
614184
Clinvar variants
Variants in DIS3L2
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dis3l2 has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: dis3l2 has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: DIS3L2 was added gene: DIS3L2 was added to Wilms Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DIS3L2 were set to Wilms tumor, MONDO:0006058; Perlman syndrome, MONDO:0009965; Perlman syndrome, MIM#267000 Review for gene: DIS3L2 was set to GREEN