Description
This panel is used for clinical indication 'R46 Congenital fibrosis of the extraocular muscles' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R46 Congenital fibrosis of the extraocular muscles'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.


The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/512/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (01/08/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

2 reviewers

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Morag Shanks (Oxford Medical Genetics laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

6 Entities

6 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
6 Entitiess
Green Green List (high evidence)
KIF21A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital fibrosis of the extraocular muscles
  • Fibrosis of extraocular muscles, congenital, 1 135700
  • Fibrosis of extraocular muscles, congenital, 3B 135700
Tags
Green Green List (high evidence)
PHOX2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Wessex and West Midlands GLH
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 2 602078
  • Fibrosis of extraocular muscles, congenital, 2
Tags
Green Green List (high evidence)
TUBB3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Wessex and West Midlands GLH
Phenotypes
  • CFEOM3A
  • Fibrosis of extraocular muscles, congenital, 3A 600638
Tags
Amber Amber List (moderate evidence)
COL25A1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Wessex and West Midlands GLH
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 5 616219
  • Fibrosis of extraocular muscles, congenital, 5
Tags
Red Red List (low evidence)
GRHL2
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
Phenotypes
  • Fibrosis of extraocular muscles, congenital
Tags
Red Red List (low evidence)
TUBB2B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 7
  • Fibrosis of extraocular muscles, congenital
Tags

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