Ataxia and cerebellar anomalies - childhood onset
Gene: OPHN1EnsemblGeneIds (GRCh38): ENSG00000079482
EnsemblGeneIds (GRCh37): ENSG00000079482
OMIM: 300127, Gene2Phenotype
OPHN1 is in 11 panels
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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
- 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
- OMIM
- 300127
- Clinvar variants
- Variants in OPHN1
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Ataxia and cerebellar anomalies - childhood onset
- Cerebellar hypoplasia
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary ataxia, adult onset
- Cerebral vascular malformations
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- DDG2P
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: OPHN1 was added gene: OPHN1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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) Phenotypes for gene: OPHN1 were set to 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