Cerebral vascular malformations
Gene: GUCY1A3
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 6:58 p.m. | Last Modified: 29 Nov 2019, 6:58 p.m.
Panel Version: 1.67
Added new-gene-name tag, new HGNC approved gene symbol for GUCY1A31 is GUCY1A1Created: 9 May 2019, 3:37 p.m.
Sourced from OMIM.Created: 8 Jan 2016, 2:05 p.m.
Phenotypes for gene: GUCY1A3 were changed from Moyamoya 6 with achalasia; Moyamoya 6 with achalasia, 615750 to Moyamoya 6 with achalasia, OMIM:615750
Source Yorkshire and North East GLH was added to GUCY1A3.
Source NHS GMS was added to GUCY1A3.
Publications for gene: GUCY1A3 were set to 24581742, 26777256
Tag new-gene-name tag was added to gene: GUCY1A3.
Publications for GUCY1A3 were set to 24581742, 26777256
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
GUCY1A3 was added to Cerebrovascular disorderspanel. Sources: Other,Expert list,Radboud University Medical Center, Nijmegen
GUCY1A3 was created by ellenmcdonagh