Hereditary ataxia with onset in adulthood
Gene: OPHN1
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Multiple reports in the litCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486 for gene: OPHN1
Source NHS GMS was added to OPHN1.
Source Wessex and West Midlands GLH was added to OPHN1.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
gene: OPHN1 was added gene: OPHN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)