C2orf71

chromosome 2 open reading frame 71
OMIM: 613425, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red C2orf71 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders Tags new-gene-name
Red C2orf71 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	Not set	Sources Emory Genetics Laboratory Tags new-gene-name
Red C2orf71 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.42	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies Tags new-gene-name
Red C2orf71 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory Tags new-gene-name
Red C2orf71 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes RETINITIS PIGMENTOSA 54 Tags new-gene-name
Green C2orf71 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA 54 613428 Tags new-gene-name
Red C2orf71 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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 54, 613428 Tags new-gene-name
Green C2orf71 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Eye Disorders Retinitis pigmentosa 54, 613428 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Tags new-gene-name
Red C2orf71 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Retinitis pigmentosa 54, 613428 Eye Disorders Tags new-gene-name
Red C2orf71 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.171	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Ciliopathies Tags new-gene-name
Red C2orf71 in Ophthalmological ciliopathies Version 3.6 Latest signed off version: v3.0 (22 Mar 2023) 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
Green C2orf71 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Retinitis pigmentosa 54, 613428 Tags new-gene-name