SUMF1

sulfatase modifying factor 1
OMIM: 607939, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red SUMF1 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory

Red SUMF1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Multiple sulfatase deficiency, 272200

Green SUMF1 in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple sulfatase deficiency, OMIM:272200

Green SUMF1 in White matter disorders and cerebral calcification - narrow panel


Version 1.198
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Multiple sulfatase deficiency

    Green SUMF1 in Lysosomal storage disorder


    Version 1.74
    Latest signed off version: v1.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • North London GLH
    Phenotypes
    • Multiple sulfatase deficiency OMIM:272200
    • mucosulfatidosis MONDO:0010088

    Green SUMF1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.138

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Multiple sulfatase deficiency

    Green SUMF1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.126
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Multiple sulfatase deficiency 272200

    Green SUMF1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Multiple sulfatase deficiency 272200

    Green SUMF1 in Inborn errors of metabolism


    Version 2.180
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Multiple sulfatase deficiency

    Green SUMF1 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SULFATIDOSIS, JUVENILE, AUSTIN TYPE

    Green SUMF1 in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SULFATIDOSIS, JUVENILE, AUSTIN TYPE 272200

    Green SUMF1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • SULFATIDOSIS, JUVENILE, AUSTIN TYPE

    Red SUMF1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SUMF1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Multiple sulfatase deficiency, 272200