Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Macular Dystrophy/Stargardt Disease
Gene: GUCA1B

GUCA1B (guanylate cyclase activator 1B)
EnsemblGeneIds (GRCh38): ENSG00000112599
EnsemblGeneIds (GRCh37): ENSG00000112599
OMIM: 602275, Gene2Phenotype
GUCA1B is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single founder variant identified in several Japanese individuals.

No other P/LP variants in ClinVar.
Created: 10 May 2022, 3:20 a.m. | Last Modified: 10 May 2022, 3:20 a.m.

Panel Version: 0.34

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 48, MIM# 613827

Publications

Created: 10 May 2022, 3:20 a.m.
Last Modified: 10 May 2022, 3:20 a.m.
Panel version: 0.34

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Royal Melbourne Hospital

Phenotypes

Retinitis pigmentosa 48, MIM#613827

Tags

founder

OMIM

Clinvar variants

Variants in GUCA1B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: guca1b has been classified as Amber List (Moderate Evidence).

10 May 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GUCA1B were changed from Retinitis pigmentosa 48, 613827 to Retinitis pigmentosa 48, MIM#613827

10 May 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GUCA1B were set to

10 May 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GUCA1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: guca1b has been classified as Amber List (Moderate Evidence).

10 May 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: GUCA1B.

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GUCA1B was added gene: GUCA1B was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GUCA1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GUCA1B were set to Retinitis pigmentosa 48, 613827