GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: DIS3L2

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

not listed in SD nosology paper. Congenital overgrowth disorders with similarities to BWS. Several cases reported. Green if considered SD.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perlman syndrome 267000

Publications

22306653

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Perlman syndrome 267000

OMIM

614184

Clinvar variants

Variants in DIS3L2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: DIS3L2 was added gene: DIS3L2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DIS3L2 were set to Perlman syndrome 267000

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: DIS3L2