|
Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Emory Genetics Laboratory
Phenotypes
- Metachromatic leukodystrophy 250100
|
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.85
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
|
Version 1.32
Signed off v.1.12
on 2 Mar 2020
Component of the following Super Panels:
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Metachromatic leukodystrophy, 250100
- Arylsulfatase A Deficiency
|
|
Version 2.39
Signed off v.2.23
on 8 Oct 2020
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Metachromatic leukodystrophy (#250100)
|
|
Version 1.3
Signed off v.1.2
on 18 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
Phenotypes
- Metachromatic leukodystrophy 250100
|
|
Version 1.7
Signed off v.1.6
on 15 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Metachromatic leukodystrophy, 250100
|
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.207
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- Metachromatic leukodystrophy (#250100)
|
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.87
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100
|
|
Version 2.38
Signed off v.2.31
on 8 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Metachromatic leukodystrophy (#250100)
- Dystonia
|
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.440
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- UKGTN
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Metachromatic leukodystrophy 250100
|
|
Version 2.50
Signed off v.2.3
on 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
- Metachromatic leukodystrophy
|
|
Version 1.185
Signed off v.1.92
on 21 Aug 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ARYLSULFATASE A DEFICIENCY
|
|
Version 2.18
Signed off v.2.2
on 13 Feb 2020
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ARYLSULFATASE A DEFICIENCY 250100
|
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Metachromatic leukodystrophy, 250100
- Severe late infantile form with mental retardation and severe course. Regression before 30 months
- adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
|
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.740
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ARYLSULFATASE A DEFICIENCY
|
|
Version 2.20
Signed off v.2.13
on 6 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Metachromatic leukodystrophy (#250100)
- Metachromatic Leukodystrophy, 250100
|
|
Version 1.16
Signed off v.1.14
on 15 Oct 2020
|
review
|
Not set
|
Sources
- Expert Review Amber
- NHS GMS
- South West GLH
Phenotypes
- Metachromatic leukodystrophy, 250100
- Dystonia
|
|
Version 1.21
Signed off v.1.2
on 27 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Severe late infantile form with mental retardation and severe course. Regression before 30 months
- adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
- Metachromatic leukodystrophy, 250100
|
|
Version 1.74
Signed off v.1.58
on 6 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert Review Green
- London North GLH
Phenotypes
- Metachromatic leukodystrophy, 250100
|
|
Version 1.43
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Metachromatic leukodystrophy, 250100
|