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  3. GUCY2D
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Congenital nystagmus

Gene: GUCY2D

Green List (high evidence)
GUCY2D (guanylate cyclase 2D, retinal)
EnsemblGeneIds (GRCh38): ENSG00000132518
EnsemblGeneIds (GRCh37): ENSG00000132518
OMIM: 600179, Gene2Phenotype
GUCY2D is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, nystagmus is a feature.
Created: 25 Oct 2021, 4:42 a.m. | Last Modified: 25 Oct 2021, 4:42 a.m.
Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 1, MIM# 204000

Publications

Created: 25 Oct 2021, 4:42 a.m.
Last Modified: 25 Oct 2021, 4:42 a.m.
Panel version: 0.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leber congenital amaurosis 1, MIM# 204000
OMIM
600179
Clinvar variants
Variants in GUCY2D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gucy2d has been classified as Green List (High Evidence).

25 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GUCY2D were changed from to Leber congenital amaurosis 1, MIM# 204000

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GUCY2D were set to

25 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GUCY2D was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GUCY2D was added gene: GUCY2D was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GUCY2D was set to