Activity
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| Alstrom syndrome v1.2 | ALMS1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #203800) and the OMIM record was last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alstrom syndrome v1.2 | ALMS1 | Achchuthan Shanmugasundram Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, OMIM:203800; Alstrom syndrome, MONDO:0008763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alstrom syndrome v0.3 | ALMS1 | Eleanor Williams changed review comment from: ALMS1 has been added to the panel for R106 Alstrom syndrome with a green rating as agreed with the NHS Genomic Medicine Service.; to: ALMS1 has been added to the panel for the clinical indication 'R106 Alstrom syndrome' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alstrom syndrome v0.3 | ALMS1 | Eleanor Williams reviewed gene: ALMS1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alstrom syndrome v0.2 | ALMS1 |
Eleanor Williams gene: ALMS1 was added gene: ALMS1 was added to Alstrom syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal |
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