Version 1.10
|
review
|
Not set
|
Sources
Phenotypes
- Clove Syndrome
- Cloves syndrome
|
Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.7
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
|
Level 3: Skin
Level 2: Tumour syndromes
Version 1.10
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- One publication showing mutations in Cowden. Await confirmation.
|
Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Other
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Other
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cerebral cavernous malformations 4, somatic, OMIM:619538
Tags
|
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Tags
|
Version 3.17
Latest signed off version: v3.3
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Other
- UKGTN
- Emory Genetics Laboratory
- Expert Review
Phenotypes
- Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501
- MCAP
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918
- CLOVE syndrome
- Macrocephaly and Overgrowth Syndromes
- Megalencephaly-Capillary malformation syndrome
- Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome
- CLOVES syndrome
- Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
- Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome
- CLOVES
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
- macrocephaly-capillary malformation (MCM) syndrome
Tags
|
Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0
(30 Nov 2022)
|
review
|
Unknown
|
Sources
Phenotypes
- Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
- Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.16
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- 1 report of several families in PTEN-negative Cowden
|
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Macrodactyly, somatic 155500
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
- CLOVE syndrome, somatic 612918
- Polydactyly
- CLAPO syndrome, somatic 613089
Tags
|
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- MCAP
- PIK3CA-related overgrowth syndromes
- MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME
- Vascular malformations
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.25
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Expert Review
Phenotypes
- Polymicrogyria, hemimegalencephaly, macrocephaly
|
Version 2.41
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
- PIK3CA-related overgrowth syndromes
- Vascular malformations
|
Version 1.63
Latest signed off version: v1.3
(15 Oct 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- PIK3CA-related overgrowth syndromes
- Vascular malformation, MONDO:0024291
|
Version 2.4
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Removed
- London North GLH
- NHS GMS
Phenotypes
- Vascular malformations
- PIK3CA-related overgrowth syndromes
Tags
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
Phenotypes
|
Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.120
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Other
Phenotypes
- Human overgrowth syndrome type
- Overgrowth with Intellectual disability
- CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3
- CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
- HEMIMEGALENCEPHALY PIK3CA
Tags
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HEMIMEGALENCEPHALY PIK3CA
- CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918
- MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501
Tags
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501
- Megalencephaly-capillary malformation-polymicrogyria syndrome, Orphanet:60040
Tags
|
Version 2.9
Latest signed off version: v2.6
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Cowden syndrome 5, OMIM:615108
- CLAPO syndrome, somatic, OMIM:613089
- CLOVE syndrome, somatic, OMIM:612918
- Macrodactyly, somatic, OMIM:155500
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
|
Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- PIK3CA-related Overgrowth Spectrum
|