Chondrodysplasia punctata
Gene: ARSEEnsemblGeneIds (GRCh38): ENSG00000157399
EnsemblGeneIds (GRCh37): ENSG00000157399
OMIM: 300180, Gene2Phenotype
ARSE is in 12 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSLCreated: 6 Sep 2019, 4:02 p.m. | Last Modified: 6 Sep 2019, 4:02 p.m.
Panel Version: 1.2
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed in G2P (hemizygous) and OMIM (XLR).Created: 29 Feb 2016, 5:32 p.m.
Comment on list classification: Promoted from amber to green due to green review, and it is a confirmed DD gene for this disorder.Created: 29 Feb 2016, 5:31 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked recessive chondrodysplasia punctata
Details
- Mode of Inheritance
- 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
- OMIM
- 300180
- Clinvar variants
- Variants in ARSE
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Palmoplantar keratodermas
- Limb disorders
- Peroxisomal disorders
- DDG2P
- Chondrodysplasia punctata
- Skeletal dysplasia
- Fetal anomalies
- Pigmentary skin disorders
- Undiagnosed metabolic disorders
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: ARSE.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ARSE were set to Chondrodysplasia punctata, X-linked recessive, 302950; X-linked recessive chondrodysplasia punctata; CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ARSE were set to Chondrodysplasia punctata, X-linked recessive, 302950; X-linked recessive chondrodysplasia punctata
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ARSE was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)ARSE was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)ARSE was added to Chondrodysplasia punctatapanel. Sources: UKGTN