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
- Fetal anomalies
- Peroxisomal disorders
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Inherited white matter disorders
- Fetal hydrops
- Structural eye disease
- Adult onset leukodystrophy
- Ductal plate malformation
- DDG2P
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Bilateral congenital or childhood onset cataracts
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