Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Tags
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.82
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
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Tags
- gene-checked
- new-gene-name
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Version 4.43
Latest signed off version: v4.0
(22 Mar 2023)
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Tags
- gene-checked
- new-gene-name
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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
- SPATA5L1-associated sensorineural hearing loss and intellectual disability
Tags
- gene-checked
- new-gene-name
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(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
- NHS GMS
- Literature
Phenotypes
- Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
- Deafness, autosomal recessive 119, OMIM:619615
Tags
- gene-checked
- new-gene-name
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
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
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Tags
- gene-checked
- new-gene-name
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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
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Tags
- gene-checked
- new-gene-name
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Tags
- new-gene-name
- gene-checked
|