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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 v1.23 TYR Arina Puzriakova Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ocular and oculo-cutaneous albinism v1.22 TYR Arina Puzriakova Phenotypes for gene: TYR were changed from Oculocutaneous Albinism; Albinism, oculocutaneous, type IA; Albinism, oculocutaneous, type IB; Waardenburg syndrome/albinism, digenic to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470
Ocular and oculo-cutaneous albinism v1.21 OCA5 Arina Puzriakova Tag curated_removed tag was added to gene: OCA5.
Ocular and oculo-cutaneous albinism v1.21 OCA5 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: OCA5.
Ocular and oculo-cutaneous albinism OCA5 Louise Daugherty classified OCA5 as grey
Ocular and oculo-cutaneous albinism OCA5 Louise Daugherty commented on OCA5
Ocular and oculo-cutaneous albinism OCA5 Sarah Leigh classified OCA5 as red
Ocular and oculo-cutaneous albinism HPS5 Olivia Niblock classified HPS5 as green
Ocular and oculo-cutaneous albinism HPS5 Olivia Niblock commented on HPS5
Ocular and oculo-cutaneous albinism HPS4 Olivia Niblock classified HPS4 as green
Ocular and oculo-cutaneous albinism HPS4 Olivia Niblock commented on HPS4
Ocular and oculo-cutaneous albinism HPS3 Olivia Niblock classified HPS3 as green
Ocular and oculo-cutaneous albinism HPS3 Olivia Niblock commented on HPS3
Ocular and oculo-cutaneous albinism HPS1 Olivia Niblock classified HPS1 as green
Ocular and oculo-cutaneous albinism HPS1 Olivia Niblock commented on HPS1
Ocular and oculo-cutaneous albinism MITF Luke Michaels reviewed MITF
Ocular and oculo-cutaneous albinism TYR Luke Michaels reviewed TYR
Ocular and oculo-cutaneous albinism OCA5 Luke Michaels added OCA5 to panel
Ocular and oculo-cutaneous albinism OCA5 Luke Michaels reviewed OCA5
Ocular and oculo-cutaneous albinism SLC24A5 Luke Michaels reviewed SLC24A5
Ocular and oculo-cutaneous albinism HPS5 Luke Michaels reviewed HPS5
Ocular and oculo-cutaneous albinism HPS4 Luke Michaels reviewed HPS4
Ocular and oculo-cutaneous albinism HPS4 Luke Michaels reviewed HPS4
Ocular and oculo-cutaneous albinism HPS3 Luke Michaels reviewed HPS3
Ocular and oculo-cutaneous albinism HPS1 Luke Michaels reviewed HPS1
Ocular and oculo-cutaneous albinism C10orf11 Louise Daugherty commented on C10orf11
Ocular and oculo-cutaneous albinism HPS5 Chris Campbell added HPS5 to panel
Ocular and oculo-cutaneous albinism HPS5 Chris Campbell reviewed HPS5
Ocular and oculo-cutaneous albinism HPS3 Chris Campbell reviewed HPS3
Ocular and oculo-cutaneous albinism HPS4 Chris Campbell added HPS4 to panel
Ocular and oculo-cutaneous albinism HPS4 Chris Campbell reviewed HPS4
Ocular and oculo-cutaneous albinism HPS3 Chris Campbell added HPS3 to panel
Ocular and oculo-cutaneous albinism HPS3 Chris Campbell reviewed HPS3
Ocular and oculo-cutaneous albinism HPS1 Chris Campbell added HPS1 to panel
Ocular and oculo-cutaneous albinism HPS1 Chris Campbell reviewed HPS1
Ocular and oculo-cutaneous albinism GNAI3 Ellen McDonagh reviewed GNAI3
Ocular and oculo-cutaneous albinism GNAI3 Sarah Leigh added GNAI3 to panel
Ocular and oculo-cutaneous albinism GNAI3 Sarah Leigh reviewed GNAI3
Ocular and oculo-cutaneous albinism Ellen McDonagh promoted panel to version 1
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 C10orf11 Ellen McDonagh marked C10orf11 as ready
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh classified C10orf11 as green
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh marked SLC24A5 as ready
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh classified SLC24A5 as green
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 LYST Ellen McDonagh marked LYST as ready
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh classified LYST as green
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh classified LYST as amber
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh classified C10orf11 as amber
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh classified LYST as red
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh commented on LYST
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh classified SLC24A5 as red
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh commented on SLC24A5
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh classified C10orf11 as red
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh commented on C10orf11
Ocular and oculo-cutaneous albinism TYRP1 Ellen McDonagh commented on TYRP1
Ocular and oculo-cutaneous albinism TYRP1 Ellen McDonagh classified TYRP1 as green
Ocular and oculo-cutaneous albinism TYR Ellen McDonagh classified TYR as green
Ocular and oculo-cutaneous albinism TYR Ellen McDonagh commented on TYR
Ocular and oculo-cutaneous albinism OCA2 Ellen McDonagh marked OCA2 as ready
Ocular and oculo-cutaneous albinism OCA2 Ellen McDonagh classified OCA2 as green
Ocular and oculo-cutaneous albinism OCA2 Ellen McDonagh commented on OCA2
Ocular and oculo-cutaneous albinism GPR143 Ellen McDonagh marked GPR143 as ready
Ocular and oculo-cutaneous albinism GPR143 Ellen McDonagh classified GPR143 as green
Ocular and oculo-cutaneous albinism GPR143 Ellen McDonagh commented on GPR143
Ocular and oculo-cutaneous albinism SLC45A2 Ellen McDonagh marked SLC45A2 as ready
Ocular and oculo-cutaneous albinism SLC45A2 Ellen McDonagh classified SLC45A2 as green
Ocular and oculo-cutaneous albinism SLC45A2 Ellen McDonagh commented on SLC45A2
Ocular and oculo-cutaneous albinism TYRP1 Penny Clouston reviewed TYRP1
Ocular and oculo-cutaneous albinism TYR Penny Clouston reviewed TYR
Ocular and oculo-cutaneous albinism SLC45A2 Penny Clouston reviewed SLC45A2
Ocular and oculo-cutaneous albinism SLC24A5 Penny Clouston reviewed SLC24A5
Ocular and oculo-cutaneous albinism OCA2 Penny Clouston reviewed OCA2
Ocular and oculo-cutaneous albinism MITF Penny Clouston reviewed MITF
Ocular and oculo-cutaneous albinism LYST Penny Clouston reviewed LYST
Ocular and oculo-cutaneous albinism GPR143 Penny Clouston reviewed GPR143
Ocular and oculo-cutaneous albinism C10orf11 Penny Clouston reviewed C10orf11