Arthrogryposis
Gene: PEX19
PEX19 (peroxisomal biogenesis factor 19)
EnsemblGeneIds (GRCh38): ENSG00000162735
EnsemblGeneIds (GRCh37): ENSG00000162735
OMIM: 600279, Gene2Phenotype
PEX19 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000162735
EnsemblGeneIds (GRCh37): ENSG00000162735
OMIM: 600279, Gene2Phenotype
PEX19 is in 18 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome biogenesis disorder 12A (Zellweger) 614886
- OMIM
- 600279
- Clinvar variants
- Variants in PEX19
- 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
- Malformations of cortical development
- Structural eye disease
- Ductal plate malformation
- Neonatal cholestasis
- Likely inborn error of metabolism
- Fetal anomalies
- Arthrogryposis
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: 0
Created
Alice Gardham (Genomics England)PEX19 was created by agardham
11 Jan 2017, Gel status: 3
Added New Source
Alice Gardham (Genomics England)PEX19 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN