Glaucoma (developmental)
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
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
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- Complete
- Panels with this gene
-
- Chondrodysplasia punctata
- Structural eye disease
- Intellectual disability
- Malformations of cortical development
- Peroxisomal disorders
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset leukodystrophy
- Hereditary neuropathy
- Arthrogryposis
- Fetal hydrops
- Skeletal dysplasia
- Palmoplantar keratodermas
- Fetal anomalies
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Neonatal cholestasis
- Glaucoma (developmental)
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)PEX7 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory