Arthrogryposis
Gene: PEX13
PEX13 (peroxisomal biogenesis factor 13)
EnsemblGeneIds (GRCh38): ENSG00000162928
EnsemblGeneIds (GRCh37): ENSG00000162928
OMIM: 601789, Gene2Phenotype
PEX13 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000162928
EnsemblGeneIds (GRCh37): ENSG00000162928
OMIM: 601789, Gene2Phenotype
PEX13 is in 18 panels
1 review
Alice Gardham (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 11A (Zellweger)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Peroxisome biogenesis disorder 11A (Zellweger)
- OMIM
- 601789
- Clinvar variants
- Variants in PEX13
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- DDG2P
- Fetal anomalies
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Ductal plate malformation
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
16 Jan 2017, Gel status: 4
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.
11 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
11 Jan 2017, Gel status: 3
Added New Source
Alice Gardham (Genomics England)PEX13 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
11 Jan 2017, Gel status: 0
Created
Alice Gardham (Genomics England)PEX13 was created by agardham