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Ocular and oculo-cutaneous albinism v1.23 TYR Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'both mono- and biallelic' to 'biallelic' only.

Biallelic variants are associated with oculocutaneous albinism. Many cases have been reported in literature (ClinGen Definitive gene-disease classification) and therefore this is appropriate for inclusion on this panel.

SNPs in TYR have been found to influence hair, eye and skin pigmentation and some studies have demonstrated an increased susceptibility to cutaneous melanoma due to certain sequence variants. There is some evidence suggesting ocular albinism may result from digenic inheritance of a TYR SNP (R402Q) alongside a heterozygous variant in the MITF gene. However, neither of these scenarios are within the remit of this panel and therefore should not be included.
Ocular and oculo-cutaneous albinism MITF Luke Michaels reviewed MITF
Ocular and oculo-cutaneous albinism MITF Ellen Thomas marked MITF as ready
Ocular and oculo-cutaneous albinism MITF Ellen Thomas classified MITF as red
Ocular and oculo-cutaneous albinism MITF Ellen Thomas commented on MITF
Ocular and oculo-cutaneous albinism MITF Ellen Thomas classified MITF as amber
Ocular and oculo-cutaneous albinism MITF Ellen McDonagh classified MITF as amber
Ocular and oculo-cutaneous albinism MITF Ellen McDonagh commented on MITF
Ocular and oculo-cutaneous albinism MITF Penny Clouston reviewed MITF