Hereditary ataxia

Gene: OPHN1

Green List (high evidence)

OPHN1 (oligophrenin 1)
EnsemblGeneIds (GRCh38): ENSG00000079482
EnsemblGeneIds (GRCh37): ENSG00000079482
OMIM: 300127, Gene2Phenotype
OPHN1 is in 12 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 reviewer
Created: 4 Feb 2016, 5:09 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Lots of evidence in lit
Created: 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

History Filter Activity

9 Jan 2019, Gel status: 3

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

24 Aug 2016, Gel status: 4

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)

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OPHN1 was added to Hereditary ataxiapanel. Sources: UKGTN