Congenital Disorders of Glycosylation
Gene: TRIP11
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
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
Gene: trip11 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP11 were set to
Gene: trip11 has been classified as Red List (Low Evidence).
gene: TRIP11 was added gene: TRIP11 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRIP11 was set to Unknown