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Severe Paediatric Disorders

Gene: TRAPPC12

Green List (high evidence)

TRAPPC12 (trafficking protein particle complex 12)
EnsemblGeneIds (GRCh38): ENSG00000171853
EnsemblGeneIds (GRCh37): ENSG00000171853
OMIM: 614139, Gene2Phenotype
TRAPPC12 is in 6 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: TRAPPC12; Recommended initial gene rating: Green List (high evidence); Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
OMIM
614139
Clinvar variants
Variants in TRAPPC12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 to Enc