Cerebral vascular malformationsGene: RNF213
Expert opinion (Vijeya Ganesan) - relevant as a cause of Moya-Moya. Ian Berry (YNELGH) noted: Variant NM_001256071.2(RNF213):c.14429G>A / Chr17(GRCh37):g.78358945G>A / Chr17(GRCh38):g.80385145G>A is relevant for this phenotype, however overall gnomAD MAF is 0.024% but the “popmax” frequency (East Asians) is 0.27%. This will need to be considered, potentially for whitelisting, if this indication moves to WGS in the future depending on the thresholds used for filtering variants
Created: 29 Nov 2019, 7:01 p.m. | Last Modified: 29 Nov 2019, 7:01 p.m.
Panel Version: 1.67
Variants in this gene confer an increased risk of developing Moyamoya rather than causing the disease
Created: 14 Dec 2016, 8:57 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Moyamoya disease 2, susceptibility to, 607151
Sourced from OMIM.
Created: 8 Jan 2016, 2:05 p.m.
Publications for gene: RNF213 were set to
Mode of inheritance for gene: RNF213 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source Expert Review Green was added to RNF213. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source Yorkshire and North East GLH was added to RNF213.
Source NHS GMS was added to RNF213.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Red List (Low Evidence).
RNF213 was created by ellenmcdonagh
RNF213 was added to Cerebrovascular disorderspanel. Sources: Other,Expert list