Clinical Domain Working Groups

The Albinism Variant Curation Expert Panel will work to develop variant classification criteria, based on the ACMG/AMP guidelines, for sequence variations in genes associated with isolated oculocutaneous and ocular albinism. Albinism is a congenital genetic condition characterized by variably decreased pigmentation of tissues in the eye and skin. Affected persons typically have visual impairment principally stemming from differences in eye development. Resulting final vision varies among affected individuals, ranging from mild to profound low vision. The Albinism VCEP will initially generate criteria for the TYR (OMIM 606933) and OCA2 (OMIM 611409) genes, for which ClinGen GCEP association work is complete. They are the two most common isolated albinism associated genes. The group will submit remaining likely-associated albinism genes for Glaucoma/Neuro GCEP review, and curate them if work formally documenting a strong association is completed. Those genes include TYRP1, SLC45A2, SLC24A5, LRMDA, DCT and GPR143.