Skeletal dysplasia
Gene: PEX7EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Chondrodysplasia punctata gp of SD - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic CDP type 1; Rhizomelic chondrodysplasia punctata, type 1, 215100
Publications
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PEX7; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 9B 614879; Rhizomelic chondrodysplasia punctata, type 1 215100
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Rhizomelic chondrodysplasia punctata, type 1, 215100
- Rhizomelic CDP type 1
- Rhizomelic chondrodysplasia punctata, type 1, 215100
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Palmoplantar keratodermas
- Hereditary neuropathy
- Peroxisomal disorders
- Retinal disorders
- DDG2P
- Chondrodysplasia punctata
- Adult onset leukodystrophy
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Ductal plate malformation
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes, Set publications
Eleanor Williams (Genomics England Curator)Added phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100; Rhizomelic CDP type 1 for gene: PEX7 Publications for gene PEX7 were changed from to 28742517; 25800479; 7719337
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PEX7. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)PEX7 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services PEX7 was added to Unexplained skeletal dysplasiapanel. Source: UKGTN PEX7 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen PEX7 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)PEX7 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)PEX7 was created by sleigh