Arthrogryposis
Gene: PEX3EnsemblGeneIds (GRCh38): ENSG00000034693
EnsemblGeneIds (GRCh37): ENSG00000034693
OMIM: 603164, Gene2Phenotype
PEX3 is in 18 panels
1 review
Alice Gardham (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 10A (Zellweger) 614882
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome biogenesis disorder 10A (Zellweger) 614882
- OMIM
- 603164
- Clinvar variants
- Variants in PEX3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Malformations of cortical development
- Peroxisomal disorders
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal hydrops
- Intellectual disability
- Ductal plate malformation
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Neonatal cholestasis
- Early onset or syndromic epilepsy
- Arthrogryposis
- Fetal anomalies
- Adult onset leukodystrophy
- Structural eye disease
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)PEX3 was added to Arthrogryposispanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Created
Alice Gardham (Genomics England)PEX3 was created by agardham