CRB1

crumbs 1, cell polarity complex component
OMIM: 604210, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red CRB1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources Expert Review Amber NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Red CRB1 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Pigmented Paravenous Chorioretinal Atrophy
Red CRB1 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	Not set	Sources Emory Genetics Laboratory
Red CRB1 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Red CRB1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Red CRB1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes LEBER CONGENITAL AMAUROSIS 8 RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE
Green CRB1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105 LEBER CONGENITAL AMAUROSIS 8 613835
Red CRB1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105 Leber congenital amaurosis 8, 613835 Pigmented paravenous chorioretinal atrophy, 172870
Green CRB1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Leber Congenital Amaurosis, OMIM:613835 Retinitis pigmentosa-12, OMIM:600105
Amber CRB1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	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
Red CRB1 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Ciliopathies
Red CRB1 in Ophthalmological ciliopathies Level 2: Ophthalmology Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Ciliopathies