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Mendeliome

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, 7:59 a.m. | Last Modified: 10 May 2022, 7:59 a.m.
Panel Version: 0.14055

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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 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

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 Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GUCA1A was added gene: GUCA1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GUCA1A was set to Unknown