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  3. PDHX
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Cerebral Palsy

Gene: PDHX

Green List (high evidence)
PDHX (pyruvate dehydrogenase complex component X)
EnsemblGeneIds (GRCh38): ENSG00000110435
EnsemblGeneIds (GRCh37): ENSG00000110435
OMIM: 608769, Gene2Phenotype
PDHX is in 12 panels

1 review

Luisa Weiss (University of Adelaide)

Green List (high evidence)

Three individual patients from three large CP cohort studies with homozygous PDHX mutations. Note that in one case (PMID 35076175) the patient had both homozygous PDHX and homozygous ACADM mutations, but his phenotype was more consistent with PDHX mutations.
Sources: Literature
Created: 27 Jun 2023, 3:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lacticacidemia due to PDX1 deficiency MIM#245349

Publications

Created: 27 Jun 2023, 3:25 a.m.

Panel version: 1.88

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lacticacidemia due to PDX1 deficiency MIM#245349
OMIM
608769
Clinvar variants
Variants in PDHX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdhx has been classified as Green List (High Evidence).

21 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdhx has been classified as Green List (High Evidence).

27 Jun 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Luisa Weiss (University of Adelaide)

gene: PDHX was added gene: PDHX was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHX were set to 33528536; 35076175; 34540776 Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349 Review for gene: PDHX was set to GREEN