Muscular dystrophy and myopathy_Paediatric
Gene: ADSSL1
PMID: 32646962 - 63 patients from 59 Japanese families with biallelic variants of ADSSL1. Most displayed variable muscle symptoms including in the proximal and/or distal leg muscles. Nemaline bodies in addition to increased lipid droplets and myofibrillar disorganization were commonly observed in all patients, suggesting that the disease may be classified as nemaline myopathyCreated: 9 May 2023, 11:34 p.m. | Last Modified: 9 May 2023, 11:34 p.m.
Panel Version: 0.130
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy MONDO:0018958
Publications
PMID: 3650622; 28268051
Age of onset 13-17 years in multiple individuals of unrelated families
PMID: 32646962 - Multiple individuals diagnosed with distal myopathy 5 (MD5)
Sources: OtherCreated: 4 May 2023, 7:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy Distal 5 (MONDO:0014877; MIM#617030)
Publications
PMID: 28268051 - Four compound heterozygous unrelated Korean patients with adolescence-onset muscle weakness and distal myopathy. Recurring variants (c.910G>A, c.1048delA) are common among Korean patients.
Review of previous reports describes all patients (9) with onset in early childhood, earliest reported at 5 years old.
PMID: 32331917 - Two homozygous families (Turkish, Indian) with missense variants. One patient was diagnosed at 18 years old, the other at 10 years old.
Patients describes with progressive muscle weakness, muscle atrophy and early contractures.
Summary: Childhood onset commonly reported - GREEN. Potential AMBER/RED in GEL as no congenital reports found.
Sources: Expert listCreated: 10 Jun 2020, 3:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, distal, 5 617030
Publications
Two unrelated families and animal model.Created: 16 Dec 2019, 11:20 p.m. | Last Modified: 16 Dec 2019, 11:20 p.m.
Panel Version: 0.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, distal, 5, MIM#617030
Publications
Gene: adssl1 has been classified as Green List (High Evidence).
Phenotypes for gene: ADSSL1 were changed from Myopathy Distal 5 (MONDO:0014877; MIM#617030) to Nemaline myopathy MONDO:0018958
Publications for gene: ADSSL1 were set to 32646962
Publications for gene: ADSSL1 were set to PMID: 3650622; 28268051; 32646962
Gene: adssl1 has been classified as Green List (High Evidence).
gene: ADSSL1 was added gene: ADSSL1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSSL1 were set to PMID: 3650622; 28268051; 32646962 Phenotypes for gene: ADSSL1 were set to Myopathy Distal 5 (MONDO:0014877; MIM#617030) Review for gene: ADSSL1 was set to GREEN