This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: PEX7
PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Chondrodysplasia punctata gp of SD - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic CDP type 1; Rhizomelic chondrodysplasia punctata, type 1, 215100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Rhizomelic chondrodysplasia punctata, type 1, 215100
- Rhizomelic CDP type 1
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- None
- 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
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PEX7 was added gene: PEX7 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Rhizomelic chondrodysplasia punctata, type 1, 215100; Rhizomelic CDP type 1