Ichthyosis
Gene: PEX7
PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 24 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Ichthyosis is reported as a variable finding of Refsum disease, but it has not been reported in cases with PEX7 biallelic variants.
Sources: Expert listCreated: 31 Jan 2020, 5:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 9B MIM#614879
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder 9B MIM#614879
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Hereditary Neuropathy - complex
- Chondrodysplasia Punctata
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Ataxia - adult onset
- Arthrogryposis
- Mendeliome
- Ichthyosis
- Cataract
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
- Peroxisomal Disorders
History Filter Activity
31 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex7 has been classified as Red List (Low Evidence).
31 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PEX7 was added gene: PEX7 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX7 were set to 12522768 Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B MIM#614879 Review for gene: PEX7 was set to RED