Ehlers Danlos syndromesGene: ADAMTSL2
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.
Created: 11 Jun 2021, 10:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dermatosparaxic Ehlers Danlos syndrome
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