Hydrops fetalis
Gene: SUMF1EnsemblGeneIds (GRCh38): ENSG00000144455
EnsemblGeneIds (GRCh37): ENSG00000144455
OMIM: 607939, Gene2Phenotype
SUMF1 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single case report found of hydrops in this metabolic condition.
Sources: Expert listCreated: 30 Dec 2019, 2:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency, MIM# 272200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Multiple sulfatase deficiency, MIM# 272200
- OMIM
- 607939
- Clinvar variants
- Variants in SUMF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Ichthyosis
- Lysosomal Storage Disorder
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sumf1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SUMF1 was added gene: SUMF1 was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to 31497481 Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, MIM# 272200 Review for gene: SUMF1 was set to RED