ARSE

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green ARSE in Chondrodysplasia punctata Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.6	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 1.20	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 Level 2: Musculoskeletal Version 7.22 Latest signed off version: v7.0 (30 Apr 2025) 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 Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	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 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) 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 1.643	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 Level 2: Metabolic Version 8.98 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	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 6.426 Latest signed off version: v6.0 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.304 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH Expert Review Red London North GLH