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| Albinism or congenital nystagmus v1.22 | LAMA1 | Ivone Leong Tag for-review was removed from gene: LAMA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.22 | LAMA1 | Ivone Leong commented on gene: LAMA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.21 | LAMA1 |
Ivone Leong Source Expert Review Green was added to LAMA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Albinism or congenital nystagmus v1.10 | LAMA1 | Ivone Leong Classified gene: LAMA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.10 | LAMA1 | Ivone Leong Gene: lama1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.9 | LAMA1 |
Ivone Leong gene: LAMA1 was added gene: LAMA1 was added to Albinism or congenital nystagmus. Sources: Literature for-review tags were added to gene: LAMA1. Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 25105227; 28283601; 33251915; 29167897; 328840387; 32195884 Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, OMIM:615960 Review for gene: LAMA1 was set to AMBER Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of this affected gene in patients who have an eye phenotype, 6 out of 11 cases have nystagmus. There is enough evidence to support a gene-disease association and this gene should be considered for Green status at the next review. Sources: Literature |
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