Hereditary Neuropathy - complex
Gene: PEX10EnsemblGeneIds (GRCh38): ENSG00000157911
EnsemblGeneIds (GRCh37): ENSG00000157911
OMIM: 602859, Gene2Phenotype
PEX10 is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Three unrelated families/cases reported with a complex phenotype including axonal motor neuropathyCreated: 23 Mar 2020, 3:39 a.m. | Last Modified: 23 Mar 2020, 3:40 a.m.
Panel Version: 0.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870; Peroxisome biogenesis disorder 6B MIM#614871
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described
- OMIM
- 602859
- Clinvar variants
- Variants in PEX10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Cataract
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
- Peroxisomal Disorders
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pex10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pex10 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PEX10 was added gene: PEX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX10 were set to 27230853; 20695019 Phenotypes for gene: PEX10 were set to Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described