BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: TUSC3

TUSC3 (tumor suppressor candidate 3)
EnsemblGeneIds (GRCh38): ENSG00000104723
EnsemblGeneIds (GRCh37): ENSG00000104723
OMIM: 601385, Gene2Phenotype
TUSC3 is in 7 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 5:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 7, 611093

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

Created: 7 Feb 2017, 5:03 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Mental retardation, autosomal recessive 7, 611093

OMIM

601385

Clinvar variants

Variants in TUSC3

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TUSC3 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source