Activity
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10 actions
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| Albinism or congenital nystagmus v3.11 | TYR | Arina Puzriakova Tag Q4_22_MOI was removed from gene: TYR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v3.11 | TYR | Arina Puzriakova edited their review of gene: TYR: Added comment: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v3.10 | TYR |
Arina Puzriakova Source NHS GMS was added to TYR. Mode of inheritance for gene TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal |
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| Albinism or congenital nystagmus v1.25 | TYR |
Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update. 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. |
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| Albinism or congenital nystagmus v1.25 | TYR | Arina Puzriakova Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.24 | TYR | Arina Puzriakova Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Albinism, oculocutaneous, type IB; Oculocutaneous Albinism to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.23 | TYR | Arina Puzriakova Tag Q4_22_MOI tag was added to gene: TYR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.18 | CLCN7 |
Arina Puzriakova gene: CLCN7 was added gene: CLCN7 was added to Albinism or congenital nystagmus. Sources: Literature watchlist tags were added to gene: CLCN7. Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN7 were set to 31155284 Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CLCN7 was set to AMBER Added comment: Nicoli et al., 2019 (PMID: 31155284) reported on two unrelated individuals from different ethnic backgrounds with the same de novo gain-of-function missense variant (c.2144A>G, p.Tyr715Cys) in the CLCN7 gene. Both children had generalised cutaneous hypopigmentation without ocular involvement, delayed myelination and motor development, and organomegaly. Biopsies showed that both probands had cytoplasmic inclusions, characteristic of those seen in lysosomal-storage disorders. Human phenotypes were recapitulated by a mouse model harbouring the knock-in Clcn7 variant. This gene-disease relationship is listed in OMIM (MIM# 618541) but is not yet in G2P. Sources: Literature |
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| Albinism or congenital nystagmus v0.2 | TYRP1 |
Ellen McDonagh gene: TYRP1 was added gene: TYRP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III; Oculocutaneous Albinism |
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| Albinism or congenital nystagmus v0.2 | TYR |
Ellen McDonagh gene: TYR was added gene: TYR was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Albinism, oculocutaneous, type IB; Oculocutaneous Albinism |
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