Description
Mucopolysaccharideosis, Gaucher, Fabry eligibility statement:

Mucopolysaccharideosis, Gaucher, Fabry inclusion criteria (29463)
- Evidence of inborn error of metabolism as demonstrated by findings in at least 2 of the following areas:
  - Clinical presentation
  - Biochemical
  - Haematological
  - Radiological
- Biochemical testing and genetic testing completed for relevant known inborn errors of metabolism

Mucopolysaccharideosis, Gaucher, Fabry exclusion criteria (29463)

Prior genetic testing guidance (29463)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Mucopolysaccharideosis, Gaucher, Fabry prior genetic testing genes (29463)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Genetic testing completed for relevant known inborn errors of metabolism

Closing statement (29463)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Helen Savage (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • alisdair mcneill (Sheffield childrens hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

18 genes

18 reviewed, 17 green

List Gene Reviews Mode of inheritance Details
18 genes
Green Green List (high evidence)
ARSB
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
  • Mucopolysaccharidosis, Type VI
  • Mucopolysaccharidosis Type VI
  • MUCOPOLYSACCHARIDOSIS TYPE 6
Green Green List (high evidence)
GALNS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis IVA, 253000
  • Mucopolysaccharidosis, Type IV
  • Mucopolysaccharidosis Type IVA
  • MUCOPOLYSACCHARIDOSIS TYPE 4A
Green Green List (high evidence)
GBA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
Phenotypes
  • Gaucher disease
  • Gaucher disease, type I, 230800
  • Gaucher disease, type II, 230900
  • Gaucher disease, type III, 231000
  • Gaucher disease, type IIIC, 231005
  • Gaucher disease, perinatal lethal, 608013
Green Green List (high evidence)
GLA
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fabry disease, 301500
  • Fabry disease, cardiac variant, 301500
  • Fabry Disease
Green Green List (high evidence)
GLB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • GM1-gangliosidosis, type I, 230500
  • GM1-gangliosidosis, type II, 230600
  • GM1-gangliosidosis, type III, 230650
  • Mucopolysaccharidosis type IVB (Morquio), 253010
  • Mucopolysaccharidosis, Type IV
  • Mucopolysaccharidosis Type IVB
  • MUCOPOLYSACCHARIDOSIS TYPE 4B
Green Green List (high evidence)
GNPTAB
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mucolipidosis, Type II
  • Mucolipidosis, Type III Alpha/Beta
  • Mucolipidosis II alpha/beta
  • Mucolipidosis III alpha/beta
Green Green List (high evidence)
GNPTG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mucolipidosis, Type III Gamma
  • Mucolipidosis III gamma
  • mucolipidpsis type III complementation group C
Green Green List (high evidence)
GNS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type IIID, 252940
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIID
  • Mucopolysaccharidosis Type III
Green Green List (high evidence)
GUSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mucopolysaccharidosis VII, 253220
  • Mucopolysaccharidosis, Type VII
  • Mucopolysaccharidosis Type VII
  • MUCOPOLYSACCHARIDOSIS TYPE 7
Green Green List (high evidence)
HGSNAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIIC
  • Mucopolysaccharidosis Type III
  • Retinitis Pigmentosa 73
Green Green List (high evidence)
IDS
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis II, 309900
  • Mucopolysaccharidosis Type II
  • MUCOPOLYSACCHARIDOSIS TYPE 2
Green Green List (high evidence)
IDUA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Mucopolysaccharidosis Ih, 607014
  • Mucopolysaccharidosis type 1H
  • Mucopolysaccharidosis type 1S
  • Mucopolysaccharidosis Is, 607016
  • Mucopolysaccharidosis type 1H/S
  • Mucopolysaccharidosis Ih/s, 607015
  • Mucopolysaccharidosis, Type I
  • Hurler syndrome
  • Hurler-Scheie syndrome
  • Scheie syndrome
Green Green List (high evidence)
MCOLN1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mucolipidosis, Type IV
Green Green List (high evidence)
NAGLU
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIIB
  • Mucopolysaccharidosis Type III
  • MUCOPOLYSACCHARIDOSIS TYPE 3B
Green Green List (high evidence)
NEU1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Sialidosis
  • Sialidosis, type I
  • Sialidosis type II
  • Mucolipidosis, Type I
Green Green List (high evidence)
PSAP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Metachromatic leukodystrophy due to SAP-b deficiency, 249900
  • Gaucher disease, atypical, 610539
  • Combined SAP deficiency, 611721
  • Krabbe disease, atypical, 611722
  • Atypical Gaucher disease
  • Atypical Krabbe disease
  • Combined SAP deficiency
  • Atypical Gaucher disease
  • Atypical Krabbe disease
  • Combined SAP deficiency
Green Green List (high evidence)
SGSH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIIA
  • Mucopolysaccharidosis Type III
  • MUCOPOLYSACCHARIDOSIS TYPE 3A
Red Red List (low evidence)
HYAL1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mucopolysaccharidosis type IX, 601492
  • Mucopolysaccharidosis, Type IX

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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