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Congenital nystagmus

Gene: CRB1

Green List (high evidence)
CRB1 (crumbs 1, cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000134376
EnsemblGeneIds (GRCh37): ENSG00000134376
OMIM: 604210, Gene2Phenotype
CRB1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Nystagmus is part of the phenotype.
Created: 25 Oct 2021, 12:03 a.m. | Last Modified: 25 Oct 2021, 12:03 a.m.
Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 8, MIM# 613835

Publications

Created: 25 Oct 2021, 12:03 a.m.
Last Modified: 25 Oct 2021, 12:03 a.m.
Panel version: 0.23

History Filter Activity

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crb1 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: CRB1 were changed from to Leber congenital amaurosis 8, MIM# 613835

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CRB1 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: CRB1 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: CRB1 was added gene: CRB1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CRB1 was set to