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  2. Paediatric motor neuronopathies
  3. TRIP4
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Paediatric motor neuronopathies

Gene: TRIP4

Green List (high evidence)
TRIP4 (thyroid hormone receptor interactor 4)
EnsemblGeneIds (GRCh38): ENSG00000103671
EnsemblGeneIds (GRCh37): ENSG00000103671
OMIM: 604501, Gene2Phenotype
TRIP4 is in 6 panels

2 reviews

Pinki Munot (Consultant )

Green List (high evidence)

3 affected families
Created: 2 Mar 2017, 6:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital SMA; fractures; respiratory insufficiency;

Created: 2 Mar 2017, 6:56 p.m.

Panel version: 0.89

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in 5 patients from 3 families and supported by zebrafish model
Created: 26 Jan 2017, 12:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with congenital bone fractures 1 616866

Publications

Created: 26 Jan 2017, 12:11 p.m.

Panel version: 0.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
  • Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209
  • Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
OMIM
604501
Clinvar variants
Variants in TRIP4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1 616866 to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806

7 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

26 Jan 2017, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

TRIP4 was added to Paediatric motor neuronopathiespanel. Sources: Literature

26 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

TRIP4 was created by agardham