Genomics England

HCFC1

host cell factor C1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MENTAL RETARDATION, X-LINKED 3 309541, COBALAMIN DISORDER
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MENTAL RETARDATION, X-LINKED 3, COBALAMIN DISORDER
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked 3, 309541, MENTAL RETARDATION, X-LINKED 3, MRX3
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541