ARSE

arylsulfatase E (chondrodysplasia punctata 1)
OMIM: 300180, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ARSE in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	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
Green ARSE in Chondrodysplasia Punctata Level 2: Skeletal disorders Version 1.1	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
Red ARSE in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	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 ARSE in Mendeliome Version 1.1902	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 ARSE in Peroxisomal Disorders Level 2: Metabolic disorders Version 0.53 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	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 ARSE in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	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 ARSE in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	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 ARSE in Additional findings_Paediatric Level 2: Screening Version 0.278	review	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 ARSE in Fetal anomalies Version 1.255	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 ARSE in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Chondrodysplasia punctata, X-linked recessive