Childhood solid tumours
Gene: DIS3L2EnsemblGeneIds (GRCh38): ENSG00000144535
EnsemblGeneIds (GRCh37): ENSG00000144535
OMIM: 614184, Gene2Phenotype
DIS3L2 is in 9 panels
4 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perlman syndrome, 267000
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: missing phenotype added to MIM IDCreated: 26 May 2017, 1:28 p.m.
Richard Scott (Genomics England Curator)
Comment on list classification: Perlman syndrome causes growth disturbance and Wilms tumourCreated: 7 Mar 2016, 11:44 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Phenotypes
-
- Perlman syndrome, 267000
- OMIM
- 614184
- Clinvar variants
- Variants in DIS3L2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to DIS3L2. Added phenotypes Perlman syndrome, 267000 for gene: DIS3L2
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to DIS3L2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DIS3L2 were set to Perlman syndrome, 267000
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Richard Scott (North Thames GMC/UCL)DIS3L2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list
Created
Richard Scott (North Thames GMC/UCL)DIS3L2 was created by Reviewer_03