Optic neuropathy

Gene: OPA4

No list

OPA4 (optic atrophy 4 (autosomal dominant))
OMIM: 605293, Gene2Phenotype
OPA4 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: demoted to Grey, this is a phenotype locus type symbol
Created: 16 Aug 2017, 10:41 a.m.

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 4:35 p.m.
"Phenotype only" locus in HGNC (not classifed as a gene with protein product locus).
Created: 7 Sep 2016, 10:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Optic atrophy 4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Optic atrophy 4
Tags
locus-type-phenotype-only ensembl_ids_known_missing curated_removed
OMIM
605293
Clinvar variants
Variants in OPA4
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: OPA4.

8 Jul 2020, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag ensembl_ids_known_missing tag was added to gene: OPA4.

16 Aug 2017, Gel status: 0

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been removed from the panel.

13 Sep 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.

7 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

OPA4 was added to Inherited optic neuropathiespanel. Sources: Other

7 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

OPA4 was created by ellenmcdonagh