Cerebral vascular malformations

Gene: GUCY1A3

Green List (high evidence)

GUCY1A3 (guanylate cyclase 1 soluble subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000164116
EnsemblGeneIds (GRCh37): ENSG00000164116
OMIM: 139396, Gene2Phenotype
GUCY1A3 is in 1 panel

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 rating
Created: 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 GUCY1A1
Created: 9 May 2019, 3:37 p.m.

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations reported in five different families
Created: 8 Dec 2016, 2:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Moyamoya 6 with achalasia 615750

Publications

Ellen McDonagh (Genomics England Curator)

Sourced from OMIM.
Created: 8 Jan 2016, 2:05 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Moyamoya 6 with achalasia
  • Moyamoya 6 with achalasia, 615750
Tags
new-gene-name
OMIM
139396
Clinvar variants
Variants in GUCY1A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GUCY1A3.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GUCY1A3.

13 Sep 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GUCY1A3 were set to 24581742, 26777256

9 May 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: GUCY1A3.

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GUCY1A3 were set to 24581742, 26777256

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

14 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

8 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GUCY1A3 was added to Cerebrovascular disorderspanel. Sources: Other,Expert list,Radboud University Medical Center, Nijmegen

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GUCY1A3 was created by ellenmcdonagh