TRIP11:Ensemblv115

thyroid hormone receptor interactor 11
OMIM: 604505, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TRIP11 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Achondrogenesis, type IA, MIM# 200600

Red TRIP11 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red

Green TRIP11 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achondrogenesis, type IA 200600
  • Achondrogenesis, type IA 200600

Green TRIP11 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Achondrogenesis, type IA, 200600 (3)

Green TRIP11 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Achondrogenesis, type IA, MIM# 200600

Green TRIP11 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Achondrogenesis, type IA, MIM#200600
Tags
  • deep intronic