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  3. RPIA
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White matter disorders and cerebral calcification - narrow panel

Gene: RPIA

Green List (high evidence)
RPIA (ribose 5-phosphate isomerase A)
EnsemblGeneIds (GRCh38): ENSG00000153574
EnsemblGeneIds (GRCh37): ENSG00000153574
OMIM: 180430, Gene2Phenotype
RPIA is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.9

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Cerebral white matter abnormalities identified in all cases to date (at least 4 unrelated families) - sufficient for RPIA to be rated Green on this panel
Created: 3 Jun 2021, noon | Last Modified: 3 Jun 2021, noon
Panel Version: 1.142
Created: 3 Jun 2021, noon
Last Modified: 3 Jun 2021, noon
Panel version: 1.142

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated individuals described to date, variable onset of leukodystrophy in childhood/adolescence, though other symptoms generally precede.
Sources: Expert list
Created: 16 Sep 2020, 4:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ribose 5-phosphate isomerase deficiency, MIM# 608611

Publications

Created: 16 Sep 2020, 4:23 a.m.

Panel version: 1.14

Details

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

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating was removed from gene: RPIA.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to RPIA. Source Expert Review Green was added to RPIA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Jun 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RPIA were set to 31247379; 14988808; 31056085

3 Jun 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: RPIA.

3 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rpia has been classified as Amber List (Moderate Evidence).

26 May 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RPIA were changed from Ribose 5-phosphate isomerase deficiency, MIM# 608611 to Ribose 5-phosphate isomerase deficiency, OMIM:608611

16 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RPIA was added gene: RPIA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 31247379; 14988808; 31056085 Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM# 608611 Review for gene: RPIA was set to GREEN