1. Panels
  2. Cone-rod Dystrophy
  3. GUCA1A
STRs in panel
Prev Next
Regions in panel
Prev Next

Cone-rod Dystrophy

Gene: GUCA1A

Green List (high evidence)
GUCA1A (guanylate cyclase activator 1A)
EnsemblGeneIds (GRCh38): ENSG00000048545
EnsemblGeneIds (GRCh37): ENSG00000048545
OMIM: 600364, Gene2Phenotype
GUCA1A is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, variable phenotypes even within the same family.
Created: 10 May 2022, 8 a.m. | Last Modified: 10 May 2022, 8 a.m.
Panel Version: 0.44

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cone dystrophy-3, MIM# 602093; Cone-rod dystrophy 14, MIM# 602093

Publications

Created: 10 May 2022, 8 a.m.
Last Modified: 10 May 2022, 8 a.m.
Panel version: 0.44

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone dystrophy-3, MIM# 602093
  • Cone-rod dystrophy 14, MIM# 602093
OMIM
600364
Clinvar variants
Variants in GUCA1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: guca1a has been classified as Green List (High Evidence).

10 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GUCA1A were changed from Cone dystrophy-3, 602093 to Cone dystrophy-3, MIM# 602093; Cone-rod dystrophy 14, MIM# 602093

10 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GUCA1A were set to 30679166

10 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GUCA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 May 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GUCA1A was added gene: GUCA1A was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GUCA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GUCA1A were set to 30679166 Phenotypes for gene: GUCA1A were set to Cone dystrophy-3, 602093