PanelApp
  1. Panels
  2. Paediatric disorders - additional genes
Description
This panel has been created as a placeholder for a new panel in development.

This panel is a component of super panel 'Paediatric disorders'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

This panel is intended to capture genes not present with a Green rating on the other constituent panels of the super panel 'Paediatric disorders'.
Panel Activity

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Lu Raymond (university of cambridge )

    Group: GeCIP domain
    Workplace: Research lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

10 Entities

10 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Green Green List (high evidence)
ABL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome 617602
Tags
  • missense
Green Green List (high evidence)
ACVR2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
Tags
Green Green List (high evidence)
ASCC1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
  • spinal muscular atrophy
  • arthrogryposis
  • fetal akinesia
  • hypotonia
  • contractures
Tags
Green Green List (high evidence)
CDX1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • anorectal malformation
Tags
Green Green List (high evidence)
CFC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 2, autosomal 605376
Tags
Green Green List (high evidence)
IARS
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Tags
  • new-gene-name
Green Green List (high evidence)
IER3IP1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • MEDS
Tags
Green Green List (high evidence)
SOX11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27
  • Coffin-Siris syndrome 9, 615866
Tags
Green Green List (high evidence)
TRAP1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
  • VACTERL
Tags
Green Green List (high evidence)
TTN
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY
Tags

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