Genomics England

OPHN1

oligophrenin 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance, Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486, Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
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 OPHN1-RELATED 300486
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486, MENTAL RETARDATION X-LINKED OPHN1-RELATED
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, with cerebellar hypoplasia and distinctive facial appearance, 300486
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486, X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486
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, with cerebellar hypoplasia and distinctive facial appearance, 300486, MENTAL RETARDATION X-LINKED OPHN1-RELATED (MRXSO)