Congenital disorders of glycosylation
Gene: TUSC3

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 3 variants reported seven families.
Created: 19 Dec 2016, 12:50 p.m.

Comment on phenotypes: Note reviewer Daniel Ungar's comment TUSC3 is involved in the glycosylation of a specific subset of sites on glycoporteins. Therefore glycosylation defects in these patients have not yet been reported.
Created: 19 Dec 2016, 12:42 p.m.

Created: 19 Dec 2016, 12:42 p.m.

Panel version: 0.115

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Autosomal-recessive nonsyndromic mental retardation/autosomal-recessive nonsyndromic intellectual disability.
TUSC3 is involved in the glycosylation of a specific subset of sites on glycoporteins. Therefore glycosylation defects in these patients have not yet been reported.
Created: 14 Dec 2016, 2:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Dec 2016, 11:37 a.m.

Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Intellectual developmental disorder, autosomal recessive 7, OMIM:611093

OMIM

601385

Clinvar variants

Variants in TUSC3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

31 Jan 2024, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TUSC3 were set to 18455129; 18452889; 26864433; 27148795

31 Jan 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TUSC3 were changed from Mental retardation, autosomal recessive 7 611093; TUSC3-CDG (Disorders of protein N-glycosylation) to Intellectual developmental disorder, autosomal recessive 7, OMIM:611093

19 Dec 2016, Gel status: 4