Chondrodysplasia punctata
Gene: PEX7EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
3 reviews
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Green gene with one green review, and is a confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1, therefore it should remain green.Created: 29 Feb 2016, 5:28 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 29 Feb 2016, 5:28 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 1
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Peroxisome biogenesis disorder 9B, OMIM:614879
- Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- Complete
- Panels with this gene
-
- Palmoplantar keratodermas
- Likely inborn error of metabolism
- Peroxisomal disorders
- Chondrodysplasia punctata
- Undiagnosed metabolic disorders
- Structural eye disease
- Skeletal dysplasia
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Hereditary neuropathy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PEX7 were changed from Rhizomelic chondrodysplasia punctata, type 1, 215100 to Peroxisome biogenesis disorder 9B, OMIM:614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)PEX7 was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)PEX7 was added to Chondrodysplasia punctatapanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)PEX7 was added to Chondrodysplasia punctatapanel. Sources: Illumina TruGenome Clinical Sequencing Services