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Prepair 1000+

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

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

LCA1 is a congenital eye disorder that primarily affects the retina and causes vision loss, nystagmus, and severe retinal dysfunction. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.

Cone-rod dystrophy 6, MIM #601777 is a dominant condition due to heterozygous mutations in GUCY2D, not reportable for Prepair1000+. See PMID: 35205358
Autosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography. Progression to mild retinitis pigmentosa may occur. See PMID: 29559409. Not reportable for Prepair1000+ (severity).
Created: 18 Dec 2024, 6:07 a.m. | Last Modified: 18 Dec 2024, 6:11 a.m.
Panel Version: 1.836

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 1, MIM #204000

Publications

Created: 18 Dec 2024, 6:07 a.m.
Last Modified: 18 Dec 2024, 6:11 a.m.
Panel version: 1.836

Details

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

History Filter Activity

24 Dec 2024, 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).

24 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GUCY2D were changed from Leber congenital amaurosis 1, 204000 (3) to Leber congenital amaurosis 1, MIM#204000

24 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GUCY2D were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Leber congenital amaurosis 1, 204000 (3) for gene: GUCY2D

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GUCY2D was added gene: GUCY2D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GUCY2D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUCY2D were set to Leber congenital amaurosis 1, 204000 (3)