CACNA1F

calcium voltage-gated channel subunit alpha1 F
OMIM: 300110, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red CACNA1F 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
Green CACNA1F in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL Cone-rod dystrophy, X-linked, 3 300476 XLR Aland Island eye disease 300600 XL
Red CACNA1F in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Red CACNA1F in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Aland Island eye disease 300600 XL Cone-rod dystrophy, X-linked, 3 300476 XLR Night blindness, congenital stationary (incomplete), 2A, X-linked 300071
Green CACNA1F in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Congenital Stationary Night Blindness Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071Cone-rod dystropy, X-linked, 3, 300476Aland Island eye disease, 300600
Red CACNA1F in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Red Phenotypes Cone-rod dystropy, X-linked, 3, 300476 Aland Island eye disease, 300600 Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 Eye Disorders
Green CACNA1F in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Cone-rod dystrophy, X-linked, 3, 300476 Aland Island eye disease, 300600 Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071