Genomics England
GMS Panels
Panels
Genes and Entities

SUMF1

sulfatase modifying factor 1
OMIM: 607939
PanelMode of inheritanceDetails
9 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SULFATIDOSIS, JUVENILE, AUSTIN TYPE 272200
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency, OMIM:272200
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency OMIM:272200, mucosulfatidosis MONDO:0010088
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency, OMIM:272200, inherited retinal dystrophy, MONDO:0019118
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency 272200
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy, Multiple sulfatase deficiency