Retinal disorders
Gene: SUMF1EnsemblGeneIds (GRCh38): ENSG00000144455
EnsemblGeneIds (GRCh37): ENSG00000144455
OMIM: 607939, Gene2Phenotype
SUMF1 is in 14 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 26 Sep 2024, 3:50 p.m.
Panel Version: 6.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Siying Lin and published in PMID:38863195, there are three unrelated cases with biallelic SUMF1 variants and retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update.Created: 18 Jun 2024, 9:58 a.m. | Last Modified: 18 Jun 2024, 1:18 p.m.
Panel Version: 5.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency, OMIM:272200; inherited retinal dystrophy, MONDO:0019118
Publications
Siying Lin (Moorfields Eye Hospital)
3 cases published in literature with biallelic variants in SUMF1 and retinal dystrophy, one paediatric patient had an attenuated phenotype, the other two adult patients had non-syndromic retinal dystrophy.
Retinal dystrophy is part of the multiple sulfatase deficiency phenotype 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
Sources: LiteratureCreated: 12 Jun 2024, 4:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy
Publications
- PMID 38863195
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Multiple sulfatase deficiency, OMIM:272200
- inherited retinal dystrophy, MONDO:0019118
- OMIM
- 607939
- Clinvar variants
- Variants in SUMF1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- DDG2P
- Skeletal dysplasia
- Inherited white matter disorders
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
- White matter disorders and cerebral calcification - narrow panel
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hydrocephalus
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: SUMF1. Tag Q2_24_NHS_review was removed from gene: SUMF1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SUMF1. Source Expert Review Green was added to SUMF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: sumf1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SUMF1 were changed from Retinal dystrophy to Multiple sulfatase deficiency, OMIM:272200; inherited retinal dystrophy, MONDO:0019118
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: SUMF1 were set to PMID 38863195
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: SUMF1. Tag Q2_24_NHS_review tag was added to gene: SUMF1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Siying Lin (Moorfields Eye Hospital)gene: SUMF1 was added gene: SUMF1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to PMID 38863195 Phenotypes for gene: SUMF1 were set to Retinal dystrophy Mode of pathogenicity for gene: SUMF1 was set to Other Review for gene: SUMF1 was set to GREEN