Aortopathy_Connective Tissue Disorders
Gene: ADAMTSL2EnsemblGeneIds (GRCh38): ENSG00000197859
EnsemblGeneIds (GRCh37): ENSG00000197859
OMIM: 612277, Gene2Phenotype
ADAMTSL2 is in 10 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 3:45 a.m. | Last Modified: 11 Jun 2021, 3:50 a.m.
Panel Version: 1.36
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dermatosparaxic Ehlers Danlos syndrome
Sue White (Victorian Clinical Genetics Services)
Desai et al reported one family with a monoallelic variant in ADAMTSL2 (p. Gly421Ser) and features of Dermatosparaxic EDS (dEDS).
Steinle et al reported 5 unrelated individuals with the same missense variant in ADAMTSL2 (p. Gly421Ser) and connective tissue phenotype including generalized joint hypermobility and pain with fragility of internal and external tissues including of skin, dura, and arteries. Individuals had family history consistent with autosomal dominant inheritance.
No functional studies done. Variant is absent from GnomAD.
Sources: LiteratureCreated: 7 Jun 2021, 5:20 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
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Dermatosparaxic Ehlers Danlos syndrome
- OMIM
- 612277
- Clinvar variants
- Variants in ADAMTSL2
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamtsl2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: adamtsl2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sue White (Victorian Clinical Genetics Services)gene: ADAMTSL2 was added gene: ADAMTSL2 was added to Aortopathy_Connective Tissue Disorders. 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 Penetrance for gene: ADAMTSL2 were set to unknown Review for gene: ADAMTSL2 was set to AMBER