White matter disorders and cerebral calcification - narrow panel
Gene: RPIA
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
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 panelCreated: 3 Jun 2021, noon | Last Modified: 3 Jun 2021, noon
Panel Version: 1.142
Four unrelated individuals described to date, variable onset of leukodystrophy in childhood/adolescence, though other symptoms generally precede.
Sources: Expert listCreated: 16 Sep 2020, 4:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ribose 5-phosphate isomerase deficiency, MIM# 608611
Publications
Tag Q2_21_rating was removed from gene: RPIA.
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)
Publications for gene: RPIA were set to 31247379; 14988808; 31056085
Tag Q2_21_rating tag was added to gene: RPIA.
Gene: rpia has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RPIA were changed from Ribose 5-phosphate isomerase deficiency, MIM# 608611 to Ribose 5-phosphate isomerase deficiency, OMIM:608611
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