Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders
Version 1.2
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Mucopolysaccharidosis VII, 253220
- Mucopolysaccharidosis, Type VII
- Mucopolysaccharidosis Type VII
- MUCOPOLYSACCHARIDOSIS TYPE 7
|
Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Mucopolysaccharidosis VII, 253220
- MPS VII (Sly syndrome)
- Hydrops fetalis
|
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Mucopolysaccharidosis VII, OMIM:253220
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
Phenotypes
- Mucopolysaccharidosis VII OMIM:253220
- mucopolysaccharidosis type 7 MONDO:0009662
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.6
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert list
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Mucopolysaccharidosis VII 253220
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- MPS VII, Sly disease (MPS IV, Morquio disease)
- Mucopolysaccharidosis VII, 253220
- Mucopolysaccharidosis, Type VII
- Mucopolysaccharidosis Type VII
- MUCOPOLYSACCHARIDOSIS TYPE 7
|
Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- MUCOPOLYSACCHARIDOSIS TYPE 7
- Mucopolysaccharidosis VII, 253220
- MPS VII, Sly disease (MPS IV, Morquio disease)
- Mucopolysaccharidosis Type VII
- Mucopolysaccharidosis, Type VII
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MUCOPOLYSACCHARIDOSIS TYPE 7
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MUCOPOLYSACCHARIDOSIS TYPE 7 253220
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Mucopolysaccharidosis VII, 253220
- MUCOPOLYSACCHARIDOSIS TYPE 7 (MPS7)
|
Version 3.43
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- South West GLH
- MetBioNet
- Expert Review Green
- MetBioNet
- South West GLH
- Expert Review Green
Phenotypes
- MPS VII, Sly disease (MPS IV, Morquio disease)
- Mucopolysaccharidosis VII, 253220
- MUCOPOLYSACCHARIDOSIS TYPE 7
- syndromic HCM
- Mucopolysaccharidosis Type VII
- Mucopolysaccharidosis, Type VII
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mucopolysaccharidosis VII, 253220
|