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Severe Paediatric Disorders

Gene: TRRAP

Green List (high evidence)

TRRAP (transformation/transcription domain associated protein)
EnsemblGeneIds (GRCh38): ENSG00000196367
EnsemblGeneIds (GRCh37): ENSG00000196367
OMIM: 603015, Gene2Phenotype
TRRAP is in 4 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: TRRAP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Developmental delay with or without dysmorphic facies and autism, 618454 (3); Mode of inheritance: 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
  • Developmental delay with or without dysmorphic facies and autism, 618454
OMIM
603015
Clinvar variants
Variants in TRRAP
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 TRRAP were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TRRAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TRRAP.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TRRAP. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TRRAP was added gene: TRRAP was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TRRAP was set to