Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.11
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Literature
Phenotypes
|
Version 2.6
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- PPGL
- pheochromocytoma-paraganglioma, MONDO:0035540
Tags
- Q4_23_NHS_review
- Q4_23_expert_review
- Q4_23_demote_red
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review Green
- Literature
Phenotypes
- Epileptic encephalopathy, early infantile, 51 617339
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Version 3.106
Latest signed off version: v3.105
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert Review Green
- Literature
Phenotypes
- Epileptic encephalopathy, early infantile, 51, 617339
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Early-Onset Severe Encephalopathy
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Early-Onset Severe Encephalopathy
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- Literature
- Expert Review Green
- Expert Review Green
- Literature
Phenotypes
- Epileptic encephalopathy, early infantile, 51
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Epileptic encephalopathy, early infantile, 51, 617339
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Literature
Phenotypes
- Epileptic encephalopathy, early infantile, 51 617339
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Epileptic encephalopathy, early infantile, 51, 617339
|