1. Panels
  2. Ataxia and cerebellar anomalies - narrow panel
  3. OPHN1
Genes in panel
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Ataxia and cerebellar anomalies - narrow panel

Gene: OPHN1

Green List (high evidence)
OPHN1 (oligophrenin 1)
EnsemblGeneIds (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

History Filter Activity

9 Jan 2019, Gel status: 4

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.

19 Dec 2018, Gel status: 4

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