Genes in panel
Regions in panel
Prev Next

Mendeliome

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic null = Achondrogenesis
Hypomorphic alleles = Osteochondrodysplasia
Created: 1 Sep 2020, 2:54 a.m. | Last Modified: 1 Sep 2020, 2:54 a.m.
Panel Version: 0.4063

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteochondrodysplasia, 184260; Achondrogenesis, type IA, 200600

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteochondrodysplasia, 184260
  • Achondrogenesis, type IA, 200600
OMIM
604505
Clinvar variants
Variants in TRIP11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2020, 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).

1 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRIP11 were changed from to Osteochondrodysplasia, 184260; Achondrogenesis, type IA, 200600

1 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRIP11 were set to

1 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRIP11 was added gene: TRIP11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRIP11 was set to Unknown