Description
Expert review recommendation is that the mitochondrial disorders gene panel should be applied to patients recruited under Lactic acidosis. The gene panel can be found here: https://bioinfo.extge.co.uk/crowdsourcing/PanelApp/EditPanel/55928cf522c1fc4f7d26e960 

Eligibility statement 

Inclusion criteria:
Evidence of inborn error of metabolism as demonstrated by findings in at least 2 of the following areas:
Clinical presentation 
Biochemical
Haematological
Radiological
Biochemical testing and genetic testing completed for relevant known inborn errors of metabolism

Exclusion criteria:

Prior Genetic Testing:
Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests: 
Genetic testing completed for relevant known inborn errors of metabolism

These requirements will be kept under continual review during the main programme and may be subject to change.

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

6 Entities

6 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
6 Entitiess
No list No list
FDX2
2 reviews
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
No list No list
ISCU
1 review
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy with lactic acidosis, hereditary, 255125
Tags
No list No list
MT-TL1
2 reviews
MITOCHONDRIAL
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • UKGTN
Tags
No list No list
PUS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia
Tags
No list No list
SUCLG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Fatal Infantile Lactic Acidosis
Tags
No list No list
YARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia
Tags

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