Cone-rod Dystrophy
Gene: RAB28

RAB28 (RAB28, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000157869
EnsemblGeneIds (GRCh37): ENSG00000157869
OMIM: 612994, Gene2Phenotype
RAB28 is in 2 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>3 different variants previously reported in multiple unrelated families with cone-rod dystrophy, with supporting segregation and functional studies.
Created: 4 Apr 2022, 8:56 a.m. | Last Modified: 4 Apr 2022, 8:56 a.m.

Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 18 (MIM#615374)

Publications

Created: 4 Apr 2022, 8:56 a.m.
Last Modified: 4 Apr 2022, 8:56 a.m.
Panel version: 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Cone-rod dystrophy 18, 615374

OMIM

612994

Clinvar variants

Variants in RAB28

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab28 has been classified as Green List (High Evidence).

6 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAB28 were set to 30679166

19 May 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RAB28 was added gene: RAB28 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RAB28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB28 were set to 30679166 Phenotypes for gene: RAB28 were set to Cone-rod dystrophy 18, 615374

Cone-rod Dystrophy Gene: RAB28