Hydrops fetalis
Gene: ARSE
ARSE (arylsulfatase E (chondrodysplasia punctata 1))
EnsemblGeneIds (GRCh38): ENSG00000157399
EnsemblGeneIds (GRCh37): ENSG00000157399
OMIM: 300180, Gene2Phenotype
ARSE is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000157399
EnsemblGeneIds (GRCh37): ENSG00000157399
OMIM: 300180, Gene2Phenotype
ARSE is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cannot find reports linking with hydrops.
Sources: Expert listCreated: 20 Aug 2020, 6:32 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Chondrodysplasia punctata, X-linked recessive, MIM# 302950
- OMIM
- 300180
- Clinvar variants
- Variants in ARSE
- Penetrance
- None
- Panels with this gene
History Filter Activity
20 Aug 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arse has been classified as Red List (Low Evidence).
20 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARSE was added gene: ARSE was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive, MIM# 302950 Review for gene: ARSE was set to RED