Arthrogryposis
Gene: PEX2EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels
1 review
Alice Gardham (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 5A (Zellweger) 614866
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome biogenesis disorder 5A (Zellweger) 614866
- OMIM
- 170993
- Clinvar variants
- Variants in PEX2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cholestasis
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
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).
Created
Alice Gardham (Genomics England)PEX2 was created by agardham
Added New Source
Alice Gardham (Genomics England)PEX2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN