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Newborns main panel

Gene: DIS3L2

Amber List (moderate evidence)
DIS3L2 (DIS3 like 3'-5' exoribonuclease 2)
EnsemblGeneIds (GRCh38): ENSG00000144535
EnsemblGeneIds (GRCh37): ENSG00000144535
OMIM: 614184, Gene2Phenotype
DIS3L2 is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/22306653/ and https://pubmed.ncbi.nlm.nih.gov/23613427/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Perlman syndrome
OMIM
614184
Clinvar variants
Variants in DIS3L2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to DIS3L2. Added phenotypes Perlman syndrome for gene: DIS3L2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: DIS3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DIS3L2. Mode of inheritance for gene DIS3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Perlman syndrome for gene: DIS3L2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: DIS3L2 was added gene: DIS3L2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DIS3L2 were set to Perlman syndrome