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Skeletal dysplasia

Gene: GUCY2D

Red List (low 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)

More than 50 families reported.

Both mono-allelic and bi-allelic variants reported for cone-rod dystrophy.
Created: 10 May 2022, 2:54 a.m. | Last Modified: 10 May 2022, 2:54 a.m.
Panel Version: 0.14007

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 6, MIM# 601777; Leber congenital amaurosis 1, MIM# 204000; Night blindness, congenital stationary, type 1I, MIM# 618555

Publications

History Filter Activity

17 Dec 2019, Gel status: 1

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 Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: GUCY2D was set to