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Congenital myopathy v7.49 PACSIN3 Achchuthan Shanmugasundram Classified gene: PACSIN3 as Amber List (moderate evidence)
Congenital myopathy v7.49 PACSIN3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated families and functional evidence including mouse model in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update.
Congenital myopathy v7.49 PACSIN3 Achchuthan Shanmugasundram Gene: pacsin3 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v7.48 PACSIN3 Achchuthan Shanmugasundram Phenotypes for gene: PACSIN3 were changed from to Congenital myopathy 27, OMIM:621343; congenital myopathy 27, MONDO:0979897
Congenital myopathy v7.47 PACSIN3 Achchuthan Shanmugasundram Publications for gene: PACSIN3 were set to
Congenital myopathy v7.46 PACSIN3 Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: PACSIN3.
Tag Q2_26_NHS_review tag was added to gene: PACSIN3.
Congenital myopathy v7.46 PACSIN3 Achchuthan Shanmugasundram changed review comment from: PMID:38637313 (2024) reported three individuals from two unrelated families presenting with childhood-onset myopathy with hyperCKaemia. They were identified with either compound heterozygous or homozygous loss-of-function variants in PACSIN3 gene via exome sequencing and confirmed by Sanger sequencing (Family 1: c.270_277del, p.Leu91AlafsTer15 and c.609_610del, p(Lys203AsnfsTer4; Family 2: c.592G>T, p.Glu198Ter), which segregated with the disorder in the two families. Ultrastructural studies in muscle tissue derived from Individual 1 showed accumulation of membranous tubules, some of which were arranged in tubular aggregates.

PMID:29202928 (2017) reported evidence from Syndapin III knockout mice, which are viable, fertile, and developed without obvious impairments under normal conditions. But, their muscle cells showed a severe reduction in caveolar invaginations without loss of caveolin3 or cavin1 from the plasma membrane . Upon physical exercise, the knockout skeletal muscles exhibited pathological features including widened fibre calibre, detached nuclei, inflammation, and necrosis - phenocopying human myopathies associated with CAV3 mutations.; to: PMID:38637313 (2024) reported three individuals from two unrelated families presenting with childhood-onset myopathy with hyperCKaemia. They were identified with either compound heterozygous or homozygous loss-of-function variants in PACSIN3 gene via exome sequencing and confirmed by Sanger sequencing (Family 1: c.270_277del, p.Leu91AlafsTer15 and c.609_610del, p(Lys203AsnfsTer4; Family 2: c.592G>T, p.Glu198Ter), which segregated with the disorder in the two families. Ultrastructural studies in muscle tissue derived from Individual 1 showed accumulation of membranous tubules, some of which were arranged in tubular aggregates.

PMID:29202928 (2017) reported evidence from Syndapin III knockout mice, which are viable, fertile, and developed without obvious impairments under normal conditions. But, their muscle cells showed a severe reduction in caveolar invaginations without loss of caveolin3 or cavin1 from the plasma membrane . Upon physical exercise, the knockout skeletal muscles exhibited pathological features including widened fibre calibre, detached nuclei, inflammation, and necrosis - phenocopying human myopathies associated with CAV3 mutations.

This gene has been associated with relevant phenotypes in both OMIM (MIM # 621343, last accessed 09 June 2026) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Congenital myopathy v7.46 PACSIN3 Achchuthan Shanmugasundram reviewed gene: PACSIN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29202928, 38637313; Phenotypes: Congenital myopathy 27, OMIM:621343, congenital myopathy 27, MONDO:0979897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v7.25 PACSIN3 Anna Sarkozy reviewed gene: PACSIN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38637313; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v7.18 PACSIN3 Arina Puzriakova Classified gene: PACSIN3 as No list
Congenital myopathy v7.18 PACSIN3 Arina Puzriakova Gene: pacsin3 has been removed from the panel.
Congenital myopathy v7.17 PACSIN3 Arina Puzriakova gene: PACSIN3 was added
gene: PACSIN3 was added to Congenital myopathy. Sources: NHS GMS
Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal