Congenital Disorders of Glycosylation
Gene: TRIP11

TRIP11 (thyroid hormone receptor interactor 11)
EnsemblGeneIds (GRCh38): ENSG00000100815
EnsemblGeneIds (GRCh37): ENSG00000100815
OMIM: 604505, Gene2Phenotype
TRIP11 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

No convincing evidence that this is a CDG.
Created: 15 Jul 2020, 6:26 a.m. | Last Modified: 15 Jul 2020, 6:26 a.m.

Panel Version: 0.73

Phenotypes
Achondrogenesis, type IA MIM# 200600; Osteochondrodysplasia MIM# 184260

Created: 15 Jul 2020, 6:26 a.m.
Last Modified: 15 Jul 2020, 6:26 a.m.
Panel version: 0.73

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Association with Achondrogenesis type 1 is well-established (>10 families) (PMID: 29872333, 20089971).

7 families were discribed with odontochondrodysplasia, a non-lethal form of achrondrogeneisis type 1 (PMID: 30728324).

No patients have biochemical evidence of a CDG that I could find (e.g. transferrins). Functional studies indicate abnormal Golgi-mediated glycosylation events in cells from mutant mice (PMID: 20089971). Glycosylation defects were also observed in patient fibroblasts (PMID: 30728324, 30518689).

This gene is on the Invitae CDG panel.
Created: 15 Jul 2020, 3:19 a.m. | Last Modified: 15 Jul 2020, 3:19 a.m.

Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achondrogenesis, type IA MIM# 200600; Osteochondrodysplasia MIM# 184260

Publications

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

Created: 15 Jul 2020, 3:19 a.m.
Last Modified: 15 Jul 2020, 3:19 a.m.
Panel version: 0.57

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

OMIM

604505

Clinvar variants

Variants in TRIP11

Penetrance

None

Publications

Panels with this gene