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Mendeliome

Gene: ADAMTSL2

Green List (high evidence)

ADAMTSL2 (ADAMTS like 2)
EnsemblGeneIds (GRCh38): ENSG00000197859
EnsemblGeneIds (GRCh37): ENSG00000197859
OMIM: 612277, Gene2Phenotype
ADAMTSL2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association between bi-allelic variants and geleophysic dysplasia is well established, over 30 families reported.

Association between mono-allelic variants and EDS is more limited: 6 families reported with same missense variant, but limited segregation and no functional data, uncertain if this could be a founder variant.
Created: 11 Jun 2021, 3:49 a.m. | Last Modified: 11 Jun 2021, 3:49 a.m.
Panel Version: 0.7914

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Geleophysic dysplasia 1, MIM# 231050; Dermatosparaxic Ehlers Danlos syndrome

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Geleophysic dysplasia 1, MIM# 231050
  • Dermatosparaxic Ehlers Danlos syndrome
OMIM
612277
Clinvar variants
Variants in ADAMTSL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamtsl2 has been classified as Green List (High Evidence).

11 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADAMTSL2 were changed from to Geleophysic dysplasia 1, MIM# 231050; Dermatosparaxic Ehlers Danlos syndrome

11 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADAMTSL2 were set to

11 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADAMTSL2 was changed from Unknown to BOTH monoallelic and 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: ADAMTSL2 was added gene: ADAMTSL2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAMTSL2 was set to Unknown