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Severe Paediatric Disorders

Gene: TRPS1

Green List (high evidence)

TRPS1 (transcriptional repressor GATA binding 1)
EnsemblGeneIds (GRCh38): ENSG00000104447
EnsemblGeneIds (GRCh37): ENSG00000104447
OMIM: 604386, Gene2Phenotype
TRPS1 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TRPS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Trichorhinophalangeal syndrome, type I, 190350 (3) | Trichorhinophalangeal syndrome, type III, 190351 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Trichorhinophalangeal syndrome, type I, 190350
  • Trichorhinophalangeal syndrome, type III, 190351
OMIM
604386
Clinvar variants
Variants in TRPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TRPS1 were updated from to 30847515

20 Feb 2020, Gel status: 3