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| Albinism or congenital nystagmus v1.22 | BLOC1S5 | Ivone Leong Tag for-review was removed from gene: BLOC1S5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.22 | BLOC1S5 | Ivone Leong commented on gene: BLOC1S5: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.21 | BLOC1S5 |
Ivone Leong Source Expert Review Green was added to BLOC1S5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Albinism or congenital nystagmus v1.13 | BLOC1S5 | Ivone Leong Classified gene: BLOC1S5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.13 | BLOC1S5 |
Ivone Leong Added comment: Comment on list classification: New gene added by Simon Ramsden (NHS). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 32565547 describes 2 unrelated cases of patients with homozygous variants in BLOC1S5. Patients had mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules. The paper also includes a mouse model. Based on the available information there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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| Albinism or congenital nystagmus v1.13 | BLOC1S5 | Ivone Leong Gene: bloc1s5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.12 | BLOC1S5 | Ivone Leong Tag for-review tag was added to gene: BLOC1S5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.12 | BLOC1S5 | Ivone Leong Phenotypes for gene: BLOC1S5 were changed from Hermansky-Pudlak syndrome to Hermansky-Pudlak syndrome, MONDO:0019312 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.11 | BLOC1S5 | Ivone Leong Publications for gene: BLOC1S5 were set to PMID 32565547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.10 | BLOC1S5 |
Simon Ramsden gene: BLOC1S5 was added gene: BLOC1S5 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S5 were set to PMID 32565547 Phenotypes for gene: BLOC1S5 were set to Hermansky-Pudlak syndrome Penetrance for gene: BLOC1S5 were set to Complete Review for gene: BLOC1S5 was set to GREEN Added comment: This is a newly described gen association and should be considered for inclusion in the Albinism panel Sources: NHS GMS |
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