CACNA1F

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CACNA1F in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aland Island eye disease MIM#300600 Cone-rod dystrophy, X-linked, 3 MIM#300476 Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071 Tags SV/CNV
Green CACNA1F in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.147 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes X-linked retinitis pigmentosa
Green CACNA1F in Congenital Stationary Night Blindness Level 2: Ophthalmological disorders Version 0.23 Component of the following Super Panels: Retinal Disorders Superpanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cone-rod dystropy, X-linked, 3, 300476 Aland Island eye disease, 300600 Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
Green CACNA1F in Cone-rod Dystrophy Level 2: Ophthalmological disorders Version 0.54 Component of the following Super Panels: Retinal Disorders Superpanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cone-rod dystropy, X-linked, 3, 300476
Green CACNA1F in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Night blindness, congenital stationary (complete), 1A, X-linked
Green CACNA1F in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.21	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Genomics England PanelApp NHS Genomic Medicine Service Phenotypes Aland Island eye disease, MIM# 300600 Cone-rod dystrophy, X-linked, 3, MIM# 300476
Red CACNA1F in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071 Cone-rod dystrophy, X-linked, 3 MIM#300476 Aland Island eye disease MIM#300600