Arthrogryposis
Gene: PEX12EnsemblGeneIds (GRCh38): ENSG00000108733
EnsemblGeneIds (GRCh37): ENSG00000108733
OMIM: 601758, Gene2Phenotype
PEX12 is in 19 panels
1 review
Alice Gardham (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 3A (Zellweger) 614859
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Peroxisome biogenesis disorder 3A (Zellweger) 614859
- OMIM
- 601758
- Clinvar variants
- Variants in PEX12
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Peroxisomal disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal hydrops
- Cholestasis
- Malformations of cortical development
- Structural eye disease
- Ductal plate malformation
- Neonatal cholestasis
- Likely inborn error of metabolism
- Fetal anomalies
- Arthrogryposis
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)PEX12 was created by agardham
Added New Source
Alice Gardham (Genomics England)PEX12 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory