Activity
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| Paediatric or syndromic cardiomyopathy v7.80 | ADSSL1 | Achchuthan Shanmugasundram Classified gene: ADSSL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.80 | ADSSL1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Hypertrophic cardiomyopathy has been reported in a significant proportion of patients with biallelic ADSSL1 variants - 12 patients (25%) in PMID:32646962 and two additional unrelated families. Hence, this gene can be promoted to green rating on this panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.80 | ADSSL1 | Achchuthan Shanmugasundram Gene: adssl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.79 | ADSSL1 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: ADSSL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.79 | ADSSL1 | Achchuthan Shanmugasundram commented on gene: ADSSL1: The 'new-gene-name' tag has been added as the official HGNC gene symbol of ADSSL1 is ADSS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.79 | ADSSL1 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: ADSSL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.79 | ADSSL1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 06 September 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.79 | ADSSL1 | Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030; myopathy, distal, 5, MONDO:0014877; hypertrophic cardiomyopathy, MONDO:0005045 to Myopathy, distal, 5, OMIM:617030; myopathy, distal, 5, MONDO:0014877; hypertrophic cardiomyopathy, MONDO:0005045 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.78 | ADSSL1 |
Achchuthan Shanmugasundram gene: ADSSL1 was added gene: ADSSL1 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSSL1 were set to 32646962; 39472908; 40302423 Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5, OMIM:617030; myopathy, distal, 5, MONDO:0014877; hypertrophic cardiomyopathy, MONDO:0005045 Review for gene: ADSSL1 was set to GREEN Added comment: PMID:32646962 (2020) reported the identification of 63 patients from 59 families with biallelic variants of ADSSL1. Seven distinct variants were identified in total, of which c.781G>A and c.919delA accounted for 53.2% and 40.5% of alleles, respectively, suggesting the presence of common founders, while the other five were novel. Most of the reported patients presented with variable myopathy with distal and proximal limb muscle weakness (often childhood onset of exercise intolerance) and facial and bulbar involvement were common in them. Left ventricular hypertrophy (LVH) was noted in 12 (25.0%) of 48 patients on EKG or echocardiography. ADSSL1 variants in nine of these patients were identified by WES and 3 were identified by Sanger sequencing. Patient 12 developed progressive heart failure with LVH before the onset of apparent muscle weakness at age 20, and he died due to multiple organ failure at age 25. PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one adult male patient with unspecified cardiomyopathy was identified with a homozygous missense variant (p.Asp261Asn) in ADSSL1 gene via analysis of data from trio genome sequencing. PMID:40302423 (2025) reported the identification of compound heterozygous pathogenic variants (c.781G>A/c.919delA) in ADSSL1 gene in two siblings with ADSSL1-myopathy. LVH was observed in both siblings and pathologically confirmed in the case where autopsy was done. Sources: Literature |
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