Ehlers Danlos syndromes

Gene: ADAMTSL2

No list

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

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • 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: 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