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Ataxia and cerebellar anomalies - narrow panel

Gene: TRIP4

No list

TRIP4 (thyroid hormone receptor interactor 4)
EnsemblGeneIds (GRCh38): ENSG00000103671
EnsemblGeneIds (GRCh37): ENSG00000103671
OMIM: 604501, Gene2Phenotype
TRIP4 is in 8 panels

1 review

Zornitza Stark (Australian Genomics)

I don't know

PMID: 34075209:
One patient with cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures, hom PTV. The same PTV had been previously reported in 3 patients from 2 families with prenatal spinal muscular atrophy and congenital bone fractures (PMID: 26924529).

Possible phenotype expansion.
Sources: Literature
Created: 11 Oct 2021, 9:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures.
OMIM
604501
Clinvar variants
Variants in TRIP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: TRIP4 was added gene: TRIP4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP4 were set to 34075209 Phenotypes for gene: TRIP4 were set to cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. Review for gene: TRIP4 was set to AMBER