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  2. Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
  3. DIS3L2
STRs in panel
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Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

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 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. There is enough evidence for this gene to be rated Green. It is also Green on Tumour predisposition - childhood onset (Version 2.13), Childhood solid tumours cancer susceptibility (Version 1.13), Skeletal dysplasia (Version 2.19), Fetal anomalies (Version 1.95), DDG2P (Version 2.9), Intellectual disability (Version 3.315) and Severe Paediatric Disorders (Version 1.11).
Created: 21 Sep 2020, 10:05 a.m. | Last Modified: 21 Sep 2020, 10:05 a.m.
Panel Version: 1.99
Created: 21 Sep 2020, 10:05 a.m.
Last Modified: 21 Sep 2020, 10:05 a.m.
Panel version: 1.99

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Neonatal macrosomia and organomegaly. At least 6 families reported (?two Dutch families founder effect), note three had CNVs. Mouse model.
Sources: Expert list
Created: 4 Jul 2020, 3:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perlman syndrome, MIM# 267000

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jul 2020, 3:05 a.m.

Panel version: 1.94

History Filter Activity

21 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

21 Sep 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DIS3L2 were changed from Perlman syndrome, MIM# 267000 to Perlman syndrome, 267000

4 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DIS3L2 was added gene: DIS3L2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DIS3L2 were set to 22306653; 28328139; 29950491 Phenotypes for gene: DIS3L2 were set to Perlman syndrome, MIM# 267000 Review for gene: DIS3L2 was set to GREEN gene: DIS3L2 was marked as current diagnostic