European Journal of Human Genetics - Clinical utility gene card for: Oculocutaneous albinism

full-text ►

European Journal of Human Genetics - Clinical utility gene card for: Oculocutaneous albinism

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 12 February 2014; doi: 10.1038/ejhg.2013.307

Clinical utility gene card for: Oculocutaneous albinism

Karen Grønskov¹, Karen Brøndum-Nielsen¹, Birgit Lorenz² and Markus N Preising²

1. ¹Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
2. ²Department of Ophthalmology, Justus-Liebig University, Giessen, Germany

Correspondence: Dr K Grønskov, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark. Tel: +45 4326 0100; Fax: +45 4342 1130; E-mail: kag@kennedy.dk or Karen.groenskov@regionh.dk

Received 2 May 2013; Revised 21 November 2013; Accepted 12 December 2013
Advance online publication 12 February 2014

Topof page

1. Disease characteristics

1.1 Name of the disease (synonyms)

Oculocutaneous albinism, autosomal recessive albinism, OCA. Subtypes include OCA1 (OCA1A and OCA1B), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.

1.2 OMIM# of the disease

203100 (OCA1A), 606952 (OCA1B), 203200 (OCA2), 203290 (OCA3), 606574 (OCA4), 615312 (OCA5), 113750 (OCA6) and 615179 (OCA7).

1.3 Name of the analysed genes or DNA/chromosome segments

TYR, OCA2, TYRP1, SLC45A2, C10orf11 and SLC24A5.

1.4 OMIM# of the gene(s)

606933 (TYR), protein: Tyrosinase. RefSeq: NG_008748.1. Transcript: NM_000372.4

611409 (OCA2), protein: OCA2. RefSeq: NG_009846.1. Transcript: NM_000275.2

115501 (TYRP1), protein: Tyrosine related protein 1. RefSeq: NG_011705.1. Transcript: NM_000550.2

606202 (SLC45A2), protein: Solute carrier family 45, member 2. RefSeq: NG_011691.1. Transcript: NM_016180.3

614537 (C10orf11), protein: C10orf11. RefSeq: not available: Transcript: NM_032024.3

609802 (SLC24A5), protein: Solute carrier family 24, member 5. RefSeq: NG_011500.1. Transcript: NM_205850.2.