This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: PDHX
PDHX (pyruvate dehydrogenase complex component X)
EnsemblGeneIds (GRCh38): ENSG00000110435
EnsemblGeneIds (GRCh37): ENSG00000110435
OMIM: 608769, Gene2Phenotype
PDHX is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000110435
EnsemblGeneIds (GRCh37): ENSG00000110435
OMIM: 608769, Gene2Phenotype
PDHX is in 13 panels
1 review
Emily Jones (North Bristol NHS Trust)
Present with lactic acidosis/seizures/ID. Dystonia not seen in isolation and only in a relatively small number of patients.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Lacticacidemia due to PDX1 deficiency, 245349
- OMIM
- 608769
- Clinvar variants
- Variants in PDHX
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Fetal anomalies
- Intellectual disability
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene PDHX was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Lacticacidemia due to PDX1 deficiency, 245349 for gene: PDHX
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to PDHX.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: PDHX was added gene: PDHX was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: PDHX was set to