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Mendeliome

Gene: SUMF1

Green List (high evidence)

SUMF1 (sulfatase modifying factor 1)
EnsemblGeneIds (GRCh38): ENSG00000144455
EnsemblGeneIds (GRCh37): ENSG00000144455
OMIM: 607939, Gene2Phenotype
SUMF1 is in 14 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

PMID:38863195 reported three unrelated cases with biallelic SUMF1 variants and retinal dystrophy. One of them was a paediatric patient with an attenuated phenotype, while the other two are adult patients with non-syndromic retinal dystrophy.

Retinal dystrophy is part of the multiple sulfatase deficiency phenotype (MIM #272200) typically associated with biallelic variants in SUMF1, and these cases show that presumed hypomorphic variants in SUMF1 may also be associated with non-syndromic retinal dystrophy.
Created: 18 Jun 2024, 1:19 p.m. | Last Modified: 18 Jun 2024, 1:21 p.m.
Panel Version: 1.1840

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
inherited retinal dystrophy, MONDO:0019118

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.
Created: 23 Mar 2022, 5:10 a.m. | Last Modified: 23 Mar 2022, 5:10 a.m.
Panel Version: 0.11802

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple sulfatase deficiency (MIM#272200)

Publications

History Filter Activity

23 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sumf1 has been classified as Green List (High Evidence).

23 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SUMF1 were changed from to Multiple sulfatase deficiency (MIM#272200)

23 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SUMF1 were set to

23 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SUMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SUMF1 was added gene: SUMF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SUMF1 was set to Unknown