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Severe Paediatric Disorders

Gene: WIPF1

Amber List (moderate evidence)

WIPF1 (WAS/WASL interacting protein family member 1)
EnsemblGeneIds (GRCh38): ENSG00000115935
EnsemblGeneIds (GRCh37): ENSG00000115935
OMIM: 602357, Gene2Phenotype
WIPF1 is in 5 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: WIPF1; Recommended initial gene rating: I don't know; Phenotypes: ?Bardet-Biedl syndrome 15, 615992 (3) | ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
  • ?Bardet-Biedl syndrome 15, 615992
OMIM
602357
Clinvar variants
Variants in WIPF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene WIPF1 were updated from to 30847515

20 Feb 2020, Gel status: 2

Set Phenotype