Congenital disorders of glycosylation
Gene: TUSC3Comment 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.
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
Publications for gene: TUSC3 were set to 18455129; 18452889; 26864433; 27148795
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
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for TUSC3 were set to Mental retardation, autosomal recessive 7 611093; TUSC3-CDG (Disorders of protein N-glycosylation)
Publications for TUSC3 were set to 18455129; 18452889; 26864433; 27148795
Publications for TUSC3 were set to 18455129; 18452889; 26864433
TUSC3 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
TUSC3 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
TUSC3 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
TUSC3 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
TUSC3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
TUSC3 was created by sleigh