SUMF1

sulfatase modifying factor 1
OMIM: 607939
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SULFATIDOSIS, JUVENILE, AUSTIN TYPE 272200
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency, OMIM:272200
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SULFATIDOSIS, JUVENILE, AUSTIN TYPE
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency OMIM:272200, mucosulfatidosis MONDO:0010088
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency 272200
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy, Multiple sulfatase deficiency