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Date	Panel	Item	Activity
Filter activities 4 actions
29 Dec 2025	Spinal muscular atrophy type 1 rare mutation testing v1.2	SMN1	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with MIM #253300 in OMIM and the OMIM record was last accessed on 29 December 2025.
29 Dec 2025	Spinal muscular atrophy type 1 rare mutation testing v1.2	SMN1	Achchuthan Shanmugasundram Phenotypes for gene: SMN1 were changed from to Spinal muscular atrophy-1, OMIM:253300; spinal muscular atrophy, type 1, MONDO:0009669
30 Jun 2023	Spinal muscular atrophy type 1 rare mutation testing v0.1	SMN1	Achchuthan Shanmugasundram reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Jun 2023	Spinal muscular atrophy type 1 rare mutation testing v0.1	SMN1	Achchuthan Shanmugasundram gene: SMN1 was added gene: SMN1 was added to Spinal muscular atrophy type 1 rare mutation testing. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal