ARSE

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ARSE in Chondrodysplasia punctata Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.5	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 X-linked recessive chondrodysplasia punctata CHONDRODYSPLASIA PUNCTATA 1, X-LINKED Tags new-gene-name
Green ARSE in Peroxisomal disorders Level 3: Peroxisomal disorders Level 2: Metabolic disorders Version 1.19	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Chondrodysplasia punctata, X-linked recessive 302950 Tags new-gene-name
Green ARSE in Limb disorders Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources UKGTN Radboud University Medical Center, Nijmegen Expert Review Green London South East RGC GSTT Viapath Phenotypes CDPXL Chondrodysplasia punctata, X-linked recessive, 302950 X-linked recessive chondrodysplasia punctata CHONDRODYSPLASIA PUNCTATA 1, X-LINKED Tags new-gene-name
Green ARSE in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Chondrodysplasia punctata Tags new-gene-name
Green ARSE in Pigmentary skin disorders Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE CDPX1 Chondrodysplasia punctata Tags new-gene-name
Green ARSE in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes CDPXL Chondrodysplasia punctata, X-linked recessive, 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED X-linked recessive chondrodysplasia punctata Tags new-gene-name
Green ARSE in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Chondrodysplasia punctata, X-linked recessive 302950 Tags new-gene-name
Green ARSE in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Chondrodysplasia punctata, X-linked recessive 302950 Tags new-gene-name
Green ARSE in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED Tags new-gene-name
Green ARSE in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950 Tags new-gene-name
Green ARSE in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED Tags new-gene-name
Red ARSE in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH Expert Review Red London North GLH
Green ARSE in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 Tags new-gene-name