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  3. ADAMTSL2
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Ehlers Danlos syndrome with a likely monogenic cause

Gene: ADAMTSL2

Amber List (moderate evidence)
ADAMTSL2 (ADAMTS like 2)
EnsemblGeneIds (GRCh38): ENSG00000197859
EnsemblGeneIds (GRCh37): ENSG00000197859
OMIM: 612277, Gene2Phenotype
ADAMTSL2 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: As reviewed by Zornitza Stark, six families were reported with the same monoallelic variant and with Ehlers-Danlos syndrome. However, there is no functional data and it is not clear whether it is a founder variant. Hence, this gene can only be rated amber with the current evidence in this panel.
Created: 10 Apr 2024, 8:15 p.m. | Last Modified: 10 Apr 2024, 8:15 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome, MONDO:0020066

Created: 10 Apr 2024, 8:11 p.m.
Last Modified: 10 Apr 2024, 8:11 p.m.
Panel version: 3.11

Zornitza Stark (Australian Genomics)

I don't know

Six families reported with same variant. However, in five, no further segregation studies were performed and overall it is unclear whether this is a founder variant or a recurrent variant. No functional data.

Note association between bi-allelic variants and geleophysic dysplasia is well established.
Sources: Literature
Created: 11 Jun 2021, 10:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dermatosparaxic Ehlers Danlos syndrome

Publications

Created: 11 Jun 2021, 10:43 a.m.

Panel version: 2.57

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Dermatosparaxic Ehlers Danlos syndrome
OMIM
612277
Clinvar variants
Variants in ADAMTSL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: adamtsl2 has been classified as Amber List (Moderate Evidence).

11 Jun 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ADAMTSL2 was added gene: ADAMTSL2 was added to Ehlers Danlos syndromes. Sources: Literature Mode of inheritance for gene: ADAMTSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADAMTSL2 were set to 33369194; 26879370 Phenotypes for gene: ADAMTSL2 were set to Dermatosparaxic Ehlers Danlos syndrome Review for gene: ADAMTSL2 was set to AMBER