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 type IIID, 252940
- Mucopolysaccharidosis, Type III
- Mucopolysaccharidosis Type IIID
- Mucopolysaccharidosis Type III
|
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 type IIID 252940
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
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
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Mucopolysaccharidosis type IIID 252940
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis type IIID, 252940
- Mucopolysaccharidosis, Type III
- Mucopolysaccharidosis Type IIID
- Mucopolysaccharidosis Type III
|
Version 4.137
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
- MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis Type IIID
- Mucopolysaccharidosis type IIID, 252940
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis, Type III
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MUCOPOLYSACCHARIDOSIS TYPE 3D
|
Version 3.90
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 3D 252940
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.553
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
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Mucopolysaccharidosis type IIID, 252940
- MUCOPOLYSACCHARIDOSIS TYPE 3D (MPS3D)
|
Version 3.47
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
- Expert Review Red
- MetBioNet
- MetBioNet
Phenotypes
- Mucopolysaccharidosis type IIID, 252940
- Mucopolysaccharidosis, Type III
- MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis Type IIID
- Mucopolysaccharidosis Type III
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mucopolysaccharidosis type IIID, 252940
|