Bilateral congenital or childhood onset cataracts
Gene: PEX7EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
A more severe phenotype with microphthalmia and neurodevelopmental abnormalities may be assocaited with AR inheritance (Bidonost et al (2006) Invest. Ophthal. Vis. Sci. 47: 1274-1280.Created: 14 Jun 2016, 8:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1 and for Refsum Disease (include congenital cataract/cataract as a phenotype, respectively).Created: 29 Apr 2016, 1:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- 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
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Chondrodysplasia punctata
- Undiagnosed metabolic disorders
- Structural eye disease
- Skeletal dysplasia
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Retinal disorders
- Likely inborn error of metabolism
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- 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; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease; Peroxisome biogenesis disorder 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 Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX7 were set to Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease;Peroxisome biogenesis disorder
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX7 were set to Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()PEX7 was added to Cataractspanel. Sources: UKGTN