Leukodystrophy - adult onset
Gene: RPIA
RPIA (ribose 5-phosphate isomerase A)
EnsemblGeneIds (GRCh38): ENSG00000153574
EnsemblGeneIds (GRCh37): ENSG00000153574
OMIM: 180430, Gene2Phenotype
RPIA is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000153574
EnsemblGeneIds (GRCh37): ENSG00000153574
OMIM: 180430, Gene2Phenotype
RPIA is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated individuals described to date, variable onset of leukodystrophy in childhood/adolescence, though other symptoms generally precede.
Sources: LiteratureCreated: 4 Jan 2020, 2:58 a.m. | Last Modified: 3 May 2020, 8:06 a.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ribose 5-phosphate isomerase deficiency, MIM# 608611
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Royal Melbourne Hospital
- Phenotypes
-
- Ribose 5-phosphate isomerase deficiency, MIM#608611
- OMIM
- 180430
- Clinvar variants
- Variants in RPIA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 May 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rpia has been classified as Green List (High Evidence).
3 May 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RPIA were set to
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RPIA was added gene: RPIA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM#608611