Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Alder Hey - Erasmus MC
Phenotypes
- Hydrocephalus with Hirschsprung disease, 307000
Tags
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000
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Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Corpus callosum, partial agenesis of, OMIM:304100
- CRASH syndrome, OMIM:303350
- Hydrocephalus due to aqueductal stenosis, OMIM:307000
- Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000
- Hydrocephalus with Hirschsprung disease, OMIM:307000
- MASA syndrome, OMIM:303350
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Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
Phenotypes
- CRASH syndrome, OMIM:303350
- MASA syndrome, OMIM:303350
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- UKGTN
- Expert list
Phenotypes
- CRASH syndrome, OMIM:303350
- MASA syndrome, OMIM:303350
- Hydrocephalus due to aqueductal stenosis, OMIM:307000
- Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000
- Hydrocephalus with Hirschsprung disease, OMIM:307000
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- NHS GMS
- Expert Review Red
- Other
Phenotypes
- arthrogryposis
- congenital hypopituitarism
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
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Version 4.43
Latest signed off version: v4.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- UKGTN
Phenotypes
- CRASH syndrome, OMIM:303350
- MASA syndrome, OMIM:303350
- Hydrocephalus due to aqueductal stenosis, OMIM:307000
- Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000
- Hydrocephalus with Hirschsprung disease, OMIM:307000
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Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- CRASH syndrome, OMIM:303350
- MASA syndrome, OMIM:303350
- Hydrocephalus due to aqueductal stenosis, OMIM:307000
- Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000
- Hydrocephalus with Hirschsprung disease, OMIM:307000
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME
- PARTIAL AGENESIS OF THE CORPUS CALLOSUM
- HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS
- SPASTIC PARAPLEGIA X-LINKED TYPE 1
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Version 3.90
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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350
- SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350
- HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000
- PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100
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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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Not set
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Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Corpus callosum, partial agenesis of, OMIM:304100
- CRASH syndrome, OMIM:303350
- MASA syndrome, OMIM:303350
- Hydrocephalus due to aqueductal stenosis, OMIM:307000
- Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000
- Hydrocephalus with Hirschsprung disease, OMIM:307000
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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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Not set
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Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
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Version 1.184
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hydrocephalus with Hirschsprung disease, 307000
- Corpus callosum, partial agenesis of, 304100
- MASA syndrome, 303350
- Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000
- CRASH syndrome, 303350
- Hydrocephalus due to aqueductal stenosis, 307000
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Version 1.5
Latest signed off version: v1.0
(22 Mar 2023)
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, OMIM:307000
Tags
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