GT/TP identifiers for the NHSE Digital Genomic Test Service are temporarily visible in PanelApp but are not yet in use in Genomics England systems
  1. Panels
  2. Neonatal or paediatric intensive care admission with a likely monogenic cause
This Panel is marked as Internal

Neonatal or paediatric intensive care admission with a likely monogenic cause (Version 0.5)

Level 3: Multi-system groups
Level 2: Ultra-rare disorders

Relevant disorders: Neonatal or paediatric intensive care admission with a likely monogenic disease
Panel types: Rare Disease 100K
Previous code: 5763f4f18f620350a1996051
Description
This is a place-holder for a panel in progress. Please contact [email protected] if you have a relevant gene list that should be added.
Panel Activity

1 reviewer

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

1 Entities

1 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
1 Entities
Red List (low evidence)
USP18
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Pseudo-TORCH syndrome 2, 617397
Tags

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

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