Description
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 (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/531/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (17/02/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. 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.  The content that is agreed for the GMS panels will be reflected in an updated version number. 

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.

6 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

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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 OMIM:614299
  • multiple mitochondrial dysfunctions syndrome 2 MONDO:0013675
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 OMIM:245348
  • pyruvate dehydrogenase E2 deficiency MONDO:0009502
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 OMIM:246900
  • pyruvate dehydrogenase E3 deficiency MONDO:0009529
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 OMIM:616277
  • mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563
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) OMIM:615471
  • mitochondrial DNA depletion syndrome 13 MONDO:0014198
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 OMIM:616859
  • spasticity-ataxia-gait anomalies syndrome MONDO:0014803
  • ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY OMIM:616860
  • sideroblastic anemia 3 MONDO:0014804
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 OMIM:250620
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
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 OMIM:615330
  • multiple mitochondrial dysfunctions syndrome 3 MONDO:0014132
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 OMIM:617613
  • multiple mitochondrial dysfunctions syndrome 5 MONDO:0033282
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 OMIM:616370
  • multiple mitochondrial dysfunctions syndrome 4 MONDO:0014611
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 OMIM:616299
  • lipoyl transferase 1 deficiency MONDO:0014576
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, Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668
  • encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:0060562
Tags
Green Green List (high evidence)
LONP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CODAS syndrome OMIM:600373
  • CODAS syndrome MONDO:0010879
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, OMIM:605711
  • Multiple mitochondrial dysfunctions syndrome 1, MONDO:0011582
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 OMIM:312170
  • pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717
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 OMIM:614111
  • pyruvate dehydrogenase E1-beta deficiency MONDO:0013580
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 OMIM:245349
  • pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009503
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 OMIM:608782
  • pyruvate dehydrogenase phosphatase deficiency MONDO:0012120
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 OMIM:249270
  • thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
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) OMIM:607483
  • biotin-responsive basal ganglia disease MONDO:0011841
Tags
Green Green List (high evidence)
SLC25A19
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MICROCEPHALY, AMISH TYPEOMIM:607196
  • Amish lethal microcephaly MONDO:0011790
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710
  • progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382
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 OMIM:616794
  • combined oxidative phosphorylation deficiency 28 MONDO:0014775
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) OMIM:614458
  • childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013761
Tags
Red Red List (low evidence)
PDP2
5 reviews
2 red
Unknown
Sources
  • NHS GMS
Phenotypes
  • pyruvate dehydrogenase deficiency MONDO:0019169
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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