Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders
Version 1.2
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review
|
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
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Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
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review
|
Not set
|
Sources
- Emory Genetics Laboratory
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Version 4.58
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
|
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 IIIB (Sanfilippo B) OMIM:252920
- Sanfilippo syndrome type B MONDO:0009656
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert review
Phenotypes
- Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.12
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Expert Review Amber
- Literaure
- Review
Phenotypes
- Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
- Late-onset painful sensory neuropathy, AD
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
- Late-onset painful sensory neuropathy, AD
|
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
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
|
Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
Phenotypes
- Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
- Mucopolysaccharidosis, Type III
- Mucopolysaccharidosis Type IIIB
- Mucopolysaccharidosis Type III
- MUCOPOLYSACCHARIDOSIS TYPE 3B
|
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 III
- Mucopolysaccharidosis, Type III
- Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
- MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
- MUCOPOLYSACCHARIDOSIS TYPE 3B
- Mucopolysaccharidosis Type IIIB
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- MUCOPOLYSACCHARIDOSIS TYPE 3B
|
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 3B 252920
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
- Expert Review
Phenotypes
- ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
|
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
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
- MUCOPOLYSACCHARIDOSIS TYPE 3B (MPS3B)
|
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Red
- Hereditary ataxia v1.148
Phenotypes
- CMT axon type 2V, 616491
- Sanfilippo syndrome B (AR) (OMIM #252920)
- Sensory neuropathy turning into a mild sensory ataxia (AD)
|
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
- Expert Review Amber
- NHS GMS
- MetBioNet
- MetBioNet
Phenotypes
- Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
- Mucopolysaccharidosis Type IIIB
- MUCOPOLYSACCHARIDOSIS TYPE 3B
- Mucopolysaccharidosis, Type III
- Mucopolysaccharidosis Type III
- MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- Expert Review Red
- Expert Review
- NHS GMS
- NHS GMS
- South West GLH
Phenotypes
- ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
- Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
|