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  3. DIS3L2
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Overgrowth

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

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Created: 4 Jul 2020, 3:02 a.m. | Last Modified: 4 Jul 2020, 3:02 a.m.
Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perlman syndrome, MIM# 267000

Publications

Created: 4 Jul 2020, 3:02 a.m.
Last Modified: 4 Jul 2020, 3:02 a.m.
Panel version: 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Perlman syndrome, MIM# 267000
Tags
SV/CNV
OMIM
614184
Clinvar variants
Variants in DIS3L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: DIS3L2.

4 Jul 2020, 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).

4 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DIS3L2 were set to

4 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DIS3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DIS3L2 was added gene: DIS3L2 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DIS3L2 was set to Unknown