Optic neuropathy
Gene: OPA8

OPA8 (optic atrophy 8 (autosomal dominant))
OMIM: 616648, Gene2Phenotype
OPA8 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: 15 Aug 2017, 2:29 p.m.

Created: 15 Aug 2017, 2:29 p.m.

Panel version: 1.5

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 4:37 p.m.

Comment on list classification: Reported in a large Italian family (PMID: 21349918). "Phenotype only" locus in HGNC (not classifed as a gene with protein product locus).
Created: 7 Sep 2016, 10:30 a.m.

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

Phenotypes
Optic atrophy 8; 616648

Created: 6 Jan 2017, 4:37 p.m.

Panel version: 1.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Removed
Other

Phenotypes

Optic atrophy 8
616648

Tags

locus-type-phenotype-only ensembl_ids_known_missing curated_removed

OMIM

616648

Clinvar variants

Variants in OPA8

Penetrance

Complete

Panels with this gene

Optic neuropathy

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: OPA8.

8 Jul 2020, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag ensembl_ids_known_missing tag was added to gene: OPA8.

15 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