OPHN1

oligophrenin 1
OMIM: 300127, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red OPHN1 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	Not set	Sources Yorkshire and North East GLH NHS GMS Expert Review Red UKGTN Phenotypes Cerebral Malformation Disorders
Green OPHN1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	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 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 OPHN1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	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 UKGTN Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Green OPHN1 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.86	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Other Eligibility statement prior genetic testing Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Red OPHN1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Green OPHN1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Green OPHN1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: 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 DD-Gene2Phenotype Expert Review Green Phenotypes OPHN1-related intellectual developmental disorder, OMIM:300486
Green OPHN1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486 MENTAL RETARDATION X-LINKED OPHN1-RELATED
Green OPHN1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 MENTAL RETARDATION X-LINKED OPHN1-RELATED (MRXSO)
Green OPHN1 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	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 Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 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
Red OPHN1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH