Arthrogryposis
Gene: PEX5EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels
1 review
Alice Gardham (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger) 214110
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Peroxisome biogenesis disorder 2A (Zellweger) 214110
- OMIM
- 600414
- Clinvar variants
- Variants in PEX5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Fetal hydrops
- Adult onset leukodystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Arthrogryposis
- Malformations of cortical development
- Structural eye disease
- Early onset or syndromic epilepsy
- Fetal anomalies
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)PEX5 was added to Arthrogryposispanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Created
Alice Gardham (Genomics England)PEX5 was created by agardham