Ehlers Danlos syndrome with a likely monogenic cause
Gene: ADAMTSL2
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
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: LiteratureCreated: 11 Jun 2021, 10:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dermatosparaxic Ehlers Danlos syndrome
Publications
Gene: adamtsl2 has been classified as Amber List (Moderate Evidence).
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