Glaucoma (developmental)
Gene: CRB1EnsemblGeneIds (GRCh38): ENSG00000134376
EnsemblGeneIds (GRCh37): ENSG00000134376
OMIM: 604210, Gene2Phenotype
CRB1 is in 12 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Zenteno: one family with nanophthalmos; Paun one family with nanophthalmos: both biallelicCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 8; Retinitis pigmentosa-12, autosomal recessive; Pigmented paravenous chorioretinal atrophy; 613835; 600105
Publications
Ivone Leong (Genomics England Curator)
Promoted from red to amber based on the expert review provided.Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Zenteno: one family with nanophthalmos; Paun one family with nanophthalmos: both biallelicCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105; Pigmented paravenous chorioretinal atrophy
Publications
Details
- Sources
-
- Expert Review Amber
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 604210
- Clinvar variants
- Variants in CRB1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)CRB1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory