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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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Described in >10 unrelated families
Knockout mouse model PMID: 20089971
Deep intronic variants have been described PMID: 34057271, 34014608
Created: 20 Jan 2025, 11:48 p.m. | Last Modified: 20 Jan 2025, 11:48 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achondrogenesis, type IA, MIM #200600

Publications

Created: 20 Jan 2025, 11:48 p.m.
Last Modified: 20 Jan 2025, 11:48 p.m.
Panel version: 1.1257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achondrogenesis, type IA, MIM#200600
Tags
deep intronic
OMIM
604505
Clinvar variants
Variants in TRIP11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deep intronic tag was added to gene: TRIP11.

23 Jan 2025, 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 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRIP11 were changed from Achondrogenesis, type IA, 200600 (3) to Achondrogenesis, type IA, MIM#200600

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRIP11 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, 200600 (3)