ARSL

arylsulfatase L
OMIM: 300180, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ARSL in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Chondrodysplasia punctata, X-linked recessive, MIM# 302950 Tags new gene name
Red ARSL in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Green ARSL in Mendeliome Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chondrodysplasia punctata, X-linked recessive, MIM# 302950 Tags new gene name
Green ARSL in Peroxisomal Disorders Level 2: Metabolic disorders Version 1.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Chondrodysplasia punctata, X-linked recessive (MIM#302950) Tags new gene name
Green ARSL in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Chondrodysplasia punctata, X-linked recessive, MIM# 302950 Tags new gene name
Green ARSL in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED X-linked recessive chondrodysplasia punctata Chondrodysplasia punctata, X-linked recessive, 302950 CDPXL
Red ARSL in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene Phenotypes Chondrodysplasia punctata, X-linked recessive
Green ARSL in Fetal anomalies Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Red ARSL in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Chondrodysplasia punctata, X-linked recessive