Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R316 Pyruvate dehydrogenase (PDH) deficiency' 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 'R316 Pyruvate dehydrogenase (PDH) deficiency'.

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 and STRs 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/531/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (31/07/2019).

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.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Carl Fratter (Oxford University Hospitals NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Shamima Rahman (UCL Institute of Child Health)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

26 Entities

26 reviewed, 24 green

List Entity Reviews Mode of inheritance Details
26 Entitiess
Green Green List (high evidence)
BOLA3
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299
Tags
Green Green List (high evidence)
DLAT
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348
Tags
Green Green List (high evidence)
DLD
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900
Tags
Green Green List (high evidence)
ECHS1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277
Tags
Green Green List (high evidence)
FBXL4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Tags
Green Green List (high evidence)
GLRX5
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859
  • ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
Tags
Green Green List (high evidence)
HIBCH
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
Tags
Green Green List (high evidence)
IBA57
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330
Tags
Green Green List (high evidence)
ISCA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Tags
Green Green List (high evidence)
ISCA2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370
Tags
Green Green List (high evidence)
LIAS
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
Tags
Green Green List (high evidence)
LIPT1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • LIPOYLTRANSFERASE 1 DEFICIENCY, 616299
Tags
Green Green List (high evidence)
LIPT2
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668
Tags
Green Green List (high evidence)
LONP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CODAS syndrome, 600373
Tags
Green Green List (high evidence)
NFU1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711
Tags
Green Green List (high evidence)
PDHA1
4 reviews
3 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
Tags
Green Green List (high evidence)
PDHB
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111
Tags
Green Green List (high evidence)
PDHX
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349
Tags
Green Green List (high evidence)
PDP1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
Tags
Green Green List (high evidence)
SLC19A2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
Tags
Green Green List (high evidence)
SLC19A3
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483
Tags
Green Green List (high evidence)
SLC25A19
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MICROCEPHALY, AMISH TYPE, 607196
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710
Tags
Green Green List (high evidence)
SLC25A26
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794
Tags
Green Green List (high evidence)
TPK1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458
Tags
Red Red List (low evidence)
PDP2
4 reviews
2 red
Unknown
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
PDPR
4 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Tags

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