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  2. Structural eye disease
  3. CRB1
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Structural eye disease

Gene: CRB1

Amber List (moderate evidence)
CRB1 (crumbs 1, cell polarity complex component)
EnsemblGeneIds (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)

I don't know

Zenteno: one family with nanophthalmos; Paun one family with nanophthalmos: both biallelic
Created: 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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

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 biallelic
Created: 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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.75

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa-12, autosomal recessive, 600105
  • Pigmented paravenous chorioretinal atrophy
  • Leber congenital amaurosis 8, 613835
  • Eye Disorders
OMIM
604210
Clinvar variants
Variants in CRB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to CRB1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CRB1. Mode of inheritance for gene CRB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105; Pigmented paravenous chorioretinal atrophy; Leber congenital amaurosis 8, 613835 for gene: CRB1 Publications for gene CRB1 were changed from to 23077403; 21484995

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CRB1 was added gene: CRB1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CRB1 was set to Phenotypes for gene: CRB1 were set to Eye Disorders