Genes in panel
Regions in panel
Prev Next

Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families and animal model.
Created: 9 Nov 2021, 10:30 p.m. | Last Modified: 9 Nov 2021, 10:30 p.m.
Panel Version: 0.9694

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, distal, 5, MIM#617030
OMIM
612498
Clinvar variants
Variants in ADSSL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADSSL1 were changed from to Myopathy, distal, 5, MIM#617030

9 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADSSL1 were set to

9 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADSSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADSSL1 was added gene: ADSSL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADSSL1 was set to Unknown