Ataxia and cerebellar anomalies - narrow panel
Gene: TRIP4
Only one case with cerebellar hypoplasia reported in literature so far and hence this gene should be rated red for now.Created: 30 Aug 2023, 10 a.m. | Last Modified: 30 Aug 2023, 10 a.m.
Panel Version: 4.31
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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: LiteratureCreated: 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
Gene: trip4 has been classified as Red List (Low Evidence).
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