Structural eye disease
Gene: PEX7EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
cataract gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 1; Peroxisome biogenesis disorder 9B; 215100; 614879
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). cataract gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 1, 215100; Peroxisome biogenesis disorder 9B, 614879
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Peroxisome biogenesis disorder 9B, 614879
- Rhizomelic chondrodysplasia punctata, type 1, 215100
- Eye Disorders
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Palmoplantar keratodermas
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- Chondrodysplasia punctata
- Skeletal dysplasia
- Structural eye disease
- Likely inborn error of metabolism
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Intellectual disability
- Ductal plate malformation
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
- Neonatal cholestasis
- Retinal disorders
- Glaucoma (developmental)
- Hereditary neuropathy
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PEX7. Mode of inheritance for gene PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 9B, 614879; Rhizomelic chondrodysplasia punctata, type 1, 215100 for gene: PEX7
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PEX7 was added gene: PEX7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PEX7 was set to Phenotypes for gene: PEX7 were set to Eye Disorders