Level 3: Skin
Level 2: Tumour syndromes
Version 1.10
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review
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Not set
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- IGH Breast cancer, somatic, 114480
- Colorectal cancer, somatic, 114500
- Ovarian cancer, somatic, 167000
- {Schizophrenia, susceptibility to}, 181500 (2)
- Proteus syndrome, somatic, 176920
- Cowden syndrome 6, 615109
|
Level 2: Viral research
Version 1.142
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review
|
Not set
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Sources
Phenotypes
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Version 3.17
Latest signed off version: v3.3
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert Review
Phenotypes
- Proteus syndrome, 176920
- Proteus syndrome, somatic,176920
- Macrocephaly and Overgrowth Syndromes
- Proteus syndrome
- Segmental Overgrowth Syndrome
Tags
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- IGH Breast cancer, somatic, 114480
- Colorectal cancer, somatic, 114500
- Ovarian cancer, somatic, 167000
- {Schizophrenia, susceptibility to}, 181500 (2)
- Proteus syndrome, somatic, 176920
- Cowden syndrome 6, 615109
|
Version 2.47
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Unknown
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Sources
- Expert Review Red
- NHS GMS
Phenotypes
- Proteus syndrome, somatic 176920
- Cowden syndrome 6 615109
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
Tags
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
Tags
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Proteus syndrome, somatic 176920
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Cowden syndrome 6 OMIM:164730
Tags
|
Version 2.13
Latest signed off version: v2.12
(1 May 2024)
Component of the following Super Panels:
Cerebral malformation
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Proteus syndrome, somatic, OMIM:176920
- Macrocephaly and Overgrowth Syndromes
- Segmental Overgrowth Syndrome
- Proteus syndrome
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cowden syndrome 6, 615109
|