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STRs in panel
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Skeletal dysplasia

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
  • NHS GMS
Phenotypes
  • Achondrogenesis, type IA 200600
  • Achondrogenesis, type IA 200600
OMIM
604505
Clinvar variants
Variants in TRIP11
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, 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 Skeletal dysplasia. Sources: NHS GMS,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; Achondrogenesis, type IA 200600