Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency
- ?Myasthenic syndrome, congenital, 22, 616224
- myasthenic syndrome
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Wessex and West Midlands GLH
- Literature
Phenotypes
- myasthenic syndrome
- congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency
- ?Myasthenic syndrome, congenital, 22, 616224
Tags
- polygenic
- treatable
- deletions
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Literature
Phenotypes
- Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
- Hypotonia-cystinuria syndrome 606407
Tags
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Red
Phenotypes
- Hypotonia-cystinuria syndrome 606407
- Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
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Version 3.155
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
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- HYPOTONIA-CYSTINURIA SYNDROME
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Version 3.87
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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- HYPOTONIA-CYSTINURIA SYNDROME 606407
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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 Red
Phenotypes
- Hypotonia-cystinuria syndrome, 606407
- HCS
- 2p21 deletion syndrome
- Intellectual disability
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