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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. TRIP4
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Cerebellar and Pontocerebellar Hypoplasia

Gene: TRIP4

Amber List (moderate evidence)
TRIP4 (thyroid hormone receptor interactor 4)
EnsemblGeneIds (GRCh38): ENSG00000103671
EnsemblGeneIds (GRCh37): ENSG00000103671
OMIM: 604501, Gene2Phenotype
TRIP4 is in 7 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

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).
Sources: Literature
Created: 4 Oct 2021, 4:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Oct 2021, 4:25 a.m.

Panel version: 1.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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

4 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trip4 has been classified as Amber List (Moderate Evidence).

4 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trip4 has been classified as Amber List (Moderate Evidence).

4 Oct 2021, Gel status: 0

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

Chern Lim (Victorian Clinical Genetics Services)

gene: TRIP4 was added gene: TRIP4 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP4 were set to PMID: 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 gene: TRIP4 was marked as current diagnostic