ADAMTSL2

ADAMTS like 2
OMIM: 612277, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ADAMTSL2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.225	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Geleophysic dysplasia 1-MIM#231050
Amber ADAMTSL2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Dermatosparaxic Ehlers Danlos syndrome
Green ADAMTSL2 in Mendeliome Version 1.2302	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Geleophysic dysplasia 1, MIM# 231050 Dermatosparaxic Ehlers Danlos syndrome
Red ADAMTSL2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Geleophysic dysplasia 1, MIM#231050
Green ADAMTSL2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Geleophysic dysplasia 1 231050
Green ADAMTSL2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Geleophysic dysplasia 1, 231050 (3)
Green ADAMTSL2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Geleophysic dysplasia 1
Green ADAMTSL2 in Fetal anomalies Version 1.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Geleophysic dysplasia 1, MIM#231050
Green ADAMTSL2 in Prepair 1000+ Level 2: Screening Version 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Geleophysic dysplasia 1, 231050 (3)
Red ADAMTSL2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Geleophysic dysplasia 1, MIM# 231050