Arthrogryposis
Gene: PEX7EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
1 review
Alice Gardham (Genomics England)
Can be associated with congenital contracturesCreated: 9 Jan 2017, 11:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 1 215100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Rhizomelic chondrodysplasia punctata, type 1 215100
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Peroxisomal disorders
- Adult onset leukodystrophy
- DDG2P
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Fetal hydrops
- Early onset or syndromic epilepsy
- Fetal anomalies
- Malformations of cortical development
- Arthrogryposis
- Ductal plate malformation
- Retinal disorders
- Palmoplantar keratodermas
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Neonatal cholestasis
- Glaucoma (developmental)
- Hereditary neuropathy
- Structural eye disease
- Chondrodysplasia punctata
- Skeletal dysplasia
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)PEX7 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Created
Alice Gardham (Genomics England)PEX7 was created by agardham