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This Panel is marked as Internal

Newborns additional phenotypes panel 3 (Version 0.13)


Panel types: Research
Description
This is a component panel of "Newborn Genomes Superpanel" (https://panelapp.genomicsengland.co.uk/panels/1275/)
This panel includes genes which have multiple phenotypes.
Panel Activity

1 reviewer

  • Mafalda Gomes (Genomics England Curator)

    Group: Other
    Workplace: Other

3 Entities

3 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
3 Entitiess
Amber List (moderate evidence)
CASR
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Autosomal dominant hypocalcemia 1
Tags
Amber List (moderate evidence)
CFH
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 1, autosomal dominant
Tags
Amber List (moderate evidence)
SCN4A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Paramyotonia congenita and Sodium channel myotonia
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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