Muscular dystrophy and myopathy_Paediatric

Gene: ADSSL1

Green List (high evidence)

ADSSL1 (adenylosuccinate synthase like 1)
EnsemblGeneIds (GRCh38): ENSG00000185100
EnsemblGeneIds (GRCh37): ENSG00000185100
OMIM: 612498, Gene2Phenotype
ADSSL1 is in 3 panels

4 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 myopathy
Created: 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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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: Other
Created: 4 May 2023, 7:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy Distal 5 (MONDO:0014877; MIM#617030)

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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 list
Created: 10 Jun 2020, 3:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, distal, 5 617030

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy MONDO:0018958
OMIM
612498
Clinvar variants
Variants in ADSSL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: adssl1 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ADSSL1 were changed from Myopathy Distal 5 (MONDO:0014877; MIM#617030) to Nemaline myopathy MONDO:0018958

9 May 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ADSSL1 were set to 32646962

9 May 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ADSSL1 were set to PMID: 3650622; 28268051; 32646962

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: adssl1 has been classified as Green List (High Evidence).

4 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

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