Ocular and oculo-cutaneous albinism

Gene: OCA5

No list

OCA5 (oculocutaneous albinism 5 (autosomal recessive))
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 symbol
Created: 16 Aug 2017, 10:43 a.m.

Luke Michaels (University of Southampton; University Hospital Southampton NHS Foundation Trus)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ALBINISM, OCULOCUTANEOUS, TYPE V

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Albinism, oculocutaneous, type V 615312
Tags
locus-type-phenotype-only ensembl_ids_known_missing
OMIM
615312
Clinvar variants
Variants in OCA5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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