Version 3.35
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Hypomyelination and Congenital Cataract
- Leukodystrophy, hypomyelinating, 5, 610532
Tags
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hypomyelination and Congenital Cataract
- Leukodystrophy hypomyelinating 5
- Leukodystrophy hypomyelinating type 5
Tags
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hypomyelination and Congenital Cataract
- Leukodystrophy, hypomyelinating, 5, 610532
Tags
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Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- LEUKODYSTROPHY HYPOMYELINATING TYPE 5
Tags
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Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532
Tags
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Leukodystrophy, hypomyelinating, 5, 610532
- Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Leukodystrophy, hypomyelinating, 5, 610532
- LEUKODYSTROPHY HYPOMYELINATING TYPE 5 (HLD5)
Tags
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532
Tags
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV
- Leukodystrophy, hypomyelinating, 5, 610532
Tags
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Leukodystrophy, hypomyelinating, 5, 610532
Tags
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