Ichthyosis
Gene: SUMF1EnsemblGeneIds (GRCh38): ENSG00000144455
EnsemblGeneIds (GRCh37): ENSG00000144455
OMIM: 607939, Gene2Phenotype
SUMF1 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder with ichthyosis as a prominent feature. >3 unrelated families reported.
Sources: Expert listCreated: 31 Jan 2020, 10:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency MIM#272200; neurologic deterioration with mental retardation; skeletal anomalies; organomegaly; ichthyosis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Multiple sulfatase deficiency MIM#272200
- neurologic deterioration with mental retardation
- skeletal anomalies
- organomegaly
- ichthyosis
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sumf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SUMF1 was added gene: SUMF1 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to 30124108; 28566233; 25222778; 24339620 Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency MIM#272200; neurologic deterioration with mental retardation; skeletal anomalies; organomegaly; ichthyosis Review for gene: SUMF1 was set to GREEN