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  2. Miscellaneous Metabolic Disorders
  3. RPIA
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Miscellaneous Metabolic Disorders

Gene: RPIA

Green List (high evidence)
RPIA (ribose 5-phosphate isomerase A)
EnsemblGeneIds (GRCh38): ENSG00000153574
EnsemblGeneIds (GRCh37): ENSG00000153574
OMIM: 180430, Gene2Phenotype
RPIA is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Sources: Expert list
Created: 7 Feb 2021, 2:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ribose 5-phosphate isomerase deficiency, MIM# 608611; Leukoencephalopathy

Publications

Created: 7 Feb 2021, 2:39 a.m.

Panel version: 0.269

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ribose 5-phosphate isomerase deficiency, MIM# 608611
  • Leukoencephalopathy
OMIM
180430
Clinvar variants
Variants in RPIA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2021, 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).

7 Feb 2021, 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).

7 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPIA was added gene: RPIA was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 14988808; 31056085; 31247379 Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM# 608611; Leukoencephalopathy Review for gene: RPIA was set to GREEN