BRIDGE_SPEED_NEURO_v2.0_20160416
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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perlman syndrome, 267000

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

Created: 7 Feb 2017, 4:18 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Perlman syndrome, 267000

OMIM

614184

Clinvar variants

Variants in DIS3L2

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DIS3L2 was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE

7 Feb 2017, Gel status: 0

Created