Description
This panel is used for clinical indication 'R38 Aniridia' 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 'R38 Aniridia'.

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 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/510/?version=2.0) 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.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Jonathan Callaway (Wessex Regional Genetics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Morag Shanks (Oxford Medical Genetics laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

7 Entities

6 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
Green Green List (high evidence)
FOXC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Tags
Green Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
  • 194072
Tags
Green Green List (high evidence)
ITPR1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Gillespie syndrome 206700
Tags
Green Green List (high evidence)
PAX6
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Aniridia 106210
Tags
Amber Amber List (moderate evidence)
PITX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
Tags
Red Red List (low evidence)
ELP4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • ?Aniridia 2, 617141
Tags
Red Red List (low evidence)
TRIM44
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • ?Aniridia 3, 617142
Tags

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