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Severe Paediatric Disorders

Gene: TPRKB

Green List (high evidence)

TPRKB (TP53RK binding protein)
EnsemblGeneIds (GRCh38): ENSG00000144034
EnsemblGeneIds (GRCh37): ENSG00000144034
OMIM: 608680, Gene2Phenotype
TPRKB 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: TPRKB; Recommended initial gene rating: Green List (high evidence); Phenotypes: Galloway-Mowat syndrome 5, 617731 (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
  • Galloway-Mowat syndrome 5, 617731
OMIM
608680
Clinvar variants
Variants in TPRKB
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 TPRKB were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Galloway-Mowat syndrome 5, 617731 for gene: TPRKB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Galloway-Mowat syndrome 5, 617731 for gene: TPRKB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Galloway-Mowat syndrome 5, 617731 for gene: TPRKB

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Galloway-Mowat syndrome 5, 617731 for gene: TPRKB

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TPRKB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Galloway-Mowat syndrome 5, 617731 for gene: TPRKB

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TPRKB.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TPRKB. 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: TPRKB was added gene: TPRKB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TPRKB was set to