Genomics England

FOXG1

forkhead box G1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Rett Syndrome, congenital variant OMIM:613454, Rett syndrome, congenital variant MONDO:0013270
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CONGENITAL VARIANT OF RETT SYNDROME 613454
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 6.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Rett syndrome, congenital variantRett Syndrome, congenital variant OMIM:613454, Rett syndrome, congenital variant MONDO:0013270
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Rett Syndrome, congenital variant OMIM:613454, Rett syndrome, congenital variant MONDO:0013270
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Rett Syndrome, congenital variant OMIM:613454, Rett syndrome, congenital variant MONDO:0013270
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Rett Syndrome, congenital variant OMIM:613454, Rett syndrome, congenital variant MONDO:0013270