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  3. ADAMTSL2
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Skeletal Dysplasia_Fetal

Gene: ADAMTSL2

Green List (high evidence)
ADAMTSL2 (ADAMTS like 2)
EnsemblGeneIds (GRCh38): ENSG00000197859
EnsemblGeneIds (GRCh37): ENSG00000197859
OMIM: 612277, Gene2Phenotype
ADAMTSL2 is in 10 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Disproportionate growth restriction affecting length has been detected in the antenatal period

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Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; perinatal presentation with skeletal and heart features reported. Multiple families reported.
Sources: Literature
Created: 7 Oct 2022, 6:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Geleophysic dysplasia 1-MIM#231050

Publications

Created: 7 Oct 2022, 6:01 a.m.

Panel version: 0.137

History Filter Activity

7 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamtsl2 has been classified as Green List (High Evidence).

7 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamtsl2 has been classified as Green List (High Evidence).

7 Oct 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ADAMTSL2 was added gene: ADAMTSL2 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL2 were set to 20301776; 21415077 Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1-MIM#231050 Review for gene: ADAMTSL2 was set to GREEN