Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.15
Latest signed off version: v3.0
(22 Mar 2023)
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review
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Not set
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Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
Phenotypes
- Cerebral Malformation Disorders
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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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- NHS GMS
- Expert Review Amber
- Literature
Phenotypes
- Hydranencephaly with abnormal genitalia, OMIM:300215
Tags
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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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Not set
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Developmental and epileptic encephalopathy 1, OMIM:308350
- X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856
- Partington syndrome, OMIM:309510
- Partington syndrome, MONDO:0010654
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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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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
- 300215
- Cerebral Malformation Disorders
- Lissencephaly, X-linked 2
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Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
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
- Lissencephaly, X-linked 2, OMIM:300215
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
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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
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Lissencephaly, X-Linked, 2 300215
- Epileptic encephalopathy, early infantile, 1 308350
- Hydranencephaly with abnormal genitalia 300215
- Mental retardation, X-linked 29 and others 300419
- Partington syndrome 309510
- Proud syndrome 300004
Tags
- nucleotide-repeat-expansion
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
|
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)
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Cerebral Malformation Disorders
- Lissencephaly, X-linked 2
- 300215
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Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
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)
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004
- ARX-related Disorders
- Lissencephaly, X-linked 2 300215
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
Unknown
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Sources
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
Phenotypes
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PARTINGTON SYNDROME
- MENTAL RETARDATION X-LINKED ARX-RELATED
- LISSENCEPHALY X-LINKED TYPE 2
- AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA
- EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1
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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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION X-LINKED ARX-RELATED 300419
- AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004
- LISSENCEPHALY X-LINKED TYPE 2 300215
- EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350
- PARTINGTON SYNDROME 309510
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert
- Expert Review Green
Phenotypes
- Epileptic encephalopathy, early infantile, 1 308350
- Hydranencephaly with abnormal genitalia 300215
- Lissencephaly, X-linked 2 300215
- Mental retardation, X-linked 29 and others 300419
- Partington syndrome 309510
- Proud syndrome 300004
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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
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
Phenotypes
- Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215
- MENTAL RETARDATION X-LINKED ARX-RELATED (MRXARX)
Tags
- nucleotide-repeat-expansion
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
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)
|
Sources
- Expert Review Amber
- NHS GMS
- South West GLH
Phenotypes
- Developmental and epileptic encephalopathy 1, OMIM:308350
- X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856
- Partington syndrome, OMIM:309510
- Partington syndrome, MONDO:0010654
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Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Amber
- South West GLH
Phenotypes
- Developmental and epileptic encephalopathy 1, OMIM:308350
- X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856
- Partington syndrome, OMIM:309510
- Partington syndrome, MONDO:0010654
Tags
|
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
- Epileptic encephalopathy, early infantile, 1, 308350
- Partington syndrome, 309510
- Proud syndrome, 300004
- Lissencephaly, X-linked 2, 300215
- Hydranencephaly with abnormal genitalia, 300215
- Mental retardation, X-linked 29 and others, 300419
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