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Severe Paediatric Disorders

Gene: NHS

Green List (high evidence)

NHS (NHS actin remodeling regulator)
EnsemblGeneIds (GRCh38): ENSG00000188158
EnsemblGeneIds (GRCh37): ENSG00000188158
OMIM: 300457, Gene2Phenotype
NHS 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: NHS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cataract 40, X-linked, 302200 (3) | Nance-Horan syndrome, 302350 (3); Mode of inheritance: X-linked | X-linked dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Nance-Horan syndrome, 302350
  • Cataract 40, X-linked, 302200
OMIM
300457
Clinvar variants
Variants in NHS
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 NHS were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance