Hereditary Neuropathy - complex
Gene: TRIP4EnsemblGeneIds (GRCh38): ENSG00000103671
EnsemblGeneIds (GRCh37): ENSG00000103671
OMIM: 604501, Gene2Phenotype
TRIP4 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
5 individuals from three families reported, zebrafish model. Fetal akinesia with contractures and bone fractures.Created: 28 Sep 2020, 4:23 a.m. | Last Modified: 28 Sep 2020, 4:23 a.m.
Panel Version: 0.84
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
- OMIM
- 604501
- Clinvar variants
- Variants in TRIP4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trip4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1 to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TRIP4 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TRIP4 was added gene: TRIP4 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1