Ocular and oculo-cutaneous albinism
Gene: OCA5
OCA5 (oculocutaneous albinism 5 (autosomal recessive))
OMIM: 615312, Gene2Phenotype
OCA5 is in 1 panel
OMIM: 615312, Gene2Phenotype
OCA5 is in 1 panel
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: demoted to Grey, this is a phenotype locus type symbolCreated: 16 Aug 2017, 10:43 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Phenotypes
-
- Albinism, oculocutaneous, type V 615312
- Tags
- OMIM
- 615312
- Clinvar variants
- Variants in OCA5
- Penetrance
- Complete
- Publications
- 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: OCA5.
8 Jul 2020, Gel status: 0
Added Tag
Eleanor Williams (Genomics England Curator)Tag ensembl_ids_known_missing tag was added to gene: OCA5.
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.
15 Aug 2017, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for OCA5 were set to Albinism, oculocutaneous, type V 615312
15 Aug 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Jul 2017, Gel status: 0
Created
Luke Michaels (University of Southampton; University Hospital Southampton NHS Foundation Trus)OCA5 was created by luke.michaels
13 Jul 2017, Gel status: 0
Added New Source
Luke Michaels (University of Southampton; University Hospital Southampton NHS Foundation Trus)OCA5 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Literature,Expert Review