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Fetal anomalies

Gene: TRIP11

Green List (high evidence)
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)

Green List (high evidence)

Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Well established gene-disease association with over 10 families reported.
Created: 1 Sep 2020, 4:59 a.m. | Last Modified: 1 Sep 2020, 4:59 a.m.
Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achondrogenesis, type IA, MIM# 200600

Publications

Created: 1 Sep 2020, 4:59 a.m.
Last Modified: 1 Sep 2020, 4:59 a.m.
Panel version: Imported from Skeletal Dysplasia_Fetal panel version 0.28

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: Imported from Congenital Disorders of Glycosylation panel version 0.57

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Achondrogenesis, type IA, MIM# 200600
OMIM
604505
Clinvar variants
Variants in TRIP11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trip11 has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRIP11 were changed from ACHONDROGENESIS TYPE 1A to Achondrogenesis, type IA, MIM# 200600

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRIP11 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRIP11 was added gene: TRIP11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP11 were set to ACHONDROGENESIS TYPE 1A