Hereditary ataxia
Gene: OPHN1EnsemblGeneIds (GRCh38): ENSG00000079482
EnsemblGeneIds (GRCh37): ENSG00000079482
OMIM: 300127, Gene2Phenotype
OPHN1 is in 11 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Added according to the mode provided by the reviewer. It is X-linked recessive in OMIM and hemizygous in Gene2Phenotype (biallelic in females).Created: 24 Aug 2016, 12:41 p.m.
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from OMIM and expert reviewerCreated: 4 Feb 2016, 5:09 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of evidence in litCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- 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
- OMIM
- 300127
- Clinvar variants
- Variants in OPHN1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for OPHN1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)OPHN1 was added to Hereditary ataxiapanel. Sources: UKGTN