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| Ataxia and cerebellar anomalies - narrow panel v4.32 | TRIP4 | Achchuthan Shanmugasundram Classified gene: TRIP4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.32 | TRIP4 | Achchuthan Shanmugasundram Gene: trip4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.31 | TRIP4 | Achchuthan Shanmugasundram reviewed gene: TRIP4: Rating: RED; Mode of pathogenicity: None; Publications: 34075209; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.236 | TRIP4 |
Zornitza Stark 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 Added comment: 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 |
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