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Research panel - Severe Paediatric Disorders

Gene: WDR60

Green List (high evidence)
WDR60 (WD repeat domain 60)
EnsemblGeneIds (GRCh38): ENSG00000126870
EnsemblGeneIds (GRCh37): ENSG00000126870
OMIM: 615462, Gene2Phenotype
WDR60 is in 10 panels

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for WDR60 is DYNC2I1
Created: 7 May 2020, 11:12 a.m. | Last Modified: 7 May 2020, 11:12 a.m.
Panel Version: 1.1
Created: 7 May 2020, 11:12 a.m.
Last Modified: 7 May 2020, 11:12 a.m.
Panel version: 1.1

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: WDR60; Recommended initial gene rating: Green List (high evidence); Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12
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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
Tags
new-gene-name
OMIM
615462
Clinvar variants
Variants in WDR60
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2020, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: WDR60.

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene WDR60 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene WDR60 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to WDR60.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to WDR60. 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: WDR60 was added gene: WDR60 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: WDR60 was set to