Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.20
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- High Risk Breast Cancer
- Breast and Ovarian Cancer
|
Version 1.3
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- harmartoma, glioma, prostate, endometrial
- Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
Phenotypes
- PTEN hamartoma tumor syndrome
- Bannayan-Riley-Ruvalcaba syndrome 153480
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Other
- Radboud University Medical Center, Nijmegen
Phenotypes
- VATER association with macrocephaly and ventriculomegaly,276950
- VACTERL ASSOCIATION WITH HYDROCEPHALUS
- VACTERL-H
|
Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.7
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Cowden syndrome 1 158350
- Lhermitte-Duclos syndrome 158350
|
Level 3: Skin
Level 2: Tumour syndromes
Version 1.10
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cowden syndrome 1, 158350
- Lhermitte-Duclos syndrome, 158350
- Bannayan-Riley-Ruvalcaba syndrome, 153480
- {Meningioma}, 607174
- {Glioma susceptibility 2}, 613028
- Macrocephaly/autism syndrome, 605309
- PTEN hamartoma tumor syndrome
- VATER association with macrocephaly and ventriculomegaly, 276950
- {Prostate cancer, somatic}, 176807
- Thyroid carcinoma, follicular, somatic, 188470
- Malignant melanoma, somatic, 155600
- Endometrial carcinoma, somatic, 608089
- Squamous cell carcinoma, head and neck, somatic, 275355
- Cowden Syndrome
- Cowden Disease
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Emory Genetics Laboratory
- Expert list
Phenotypes
- PTEN hamartoma tumor syndrome
- Bannayan-Riley-Ruvalcaba syndrome 153480
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.12
Latest signed off version: v2.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.2
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.3
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Cowden Syndrome
- PTEN hamartoma tumor syndrome
- Breast cancer
- Thyroid cancer
- Endometrial cancer
|
Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.14
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Cowden syndrome 1, 158350
- Lhermitte-Duclos syndrome, 158350
- Bannayan-Riley-Ruvalcaba syndrome, 153480
- {Meningioma}, 607174
- {Glioma susceptibility 2}, 613028
- Macrocephaly/autism syndrome, 605309
- PTEN hamartoma tumor syndrome
- VATER association with macrocephaly and ventriculomegaly, 76950
- Prostate cancer, somatic}, 176807
- Thyroid carcinoma, follicular, somatic, 188470
- Malignant melanoma, somatic, 155600
- Endometrial carcinoma, somatic, 608089
- Squamous cell carcinoma, head and neck, somatic, 275355
- VATER association with macrocephaly and ventriculomegaly, 276950
- {Prostate cancer, somatic}, 176807
- Cowden Syndrome
- Cowden Disease
|
Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.40
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 2: Viral research
Version 1.142
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- IUIS Classification February 2018
- IUIS Classification December 2019
- London North GLH
- NHS GMS
- North West GLH
- IUIS Classification December 2019
- North West GLH
- London North GLH
- NHS GMS
- IUIS Classification February 2018
Phenotypes
- Recurrent infections, Lymphoproliferation, Autoimmunity
- Lymphoproliferation, Autoimmunity
- developmental delay
- Predominantly Antibody Deficiencies
|
Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
Phenotypes
- Bannayan-Riley-Ruvalcaba Syndrome
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23
|
review
|
Not set
|
Sources
- Expert Review Amber
- Expert Review
Phenotypes
- Bannayan-Riley-Ruvalcaba syndrome 153480
|
Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355
|
Version 4.6
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Macrocephaly/autism syndrome, OMIM:605309
|
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
- Radboud University Medical Center, Nijmegen
- Expert Review
Phenotypes
- Bannayan-Riley-Ruvalcaba syndrome, 153480
- BRRS
- Bannayan-Riley-Ruvalcaba syndrome,153480
- PHTS
- PTEN Hamartoma Tumor Syndrome
- Macrocephaly and Overgrowth Syndromes
- megalencephaly
- macrocephaly
- Bannayan Riley Ruvalcalba Syndrome
- Bannayan-Riley-Ruvalcaba Syndrome
- Cowden syndrome
- Proteus-like syndrome
- hemihypertrophy
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Cowden syndrome 1, OMIM:158350
|
Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 4.3
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Emory Genetics Laboratory
Phenotypes
- High Risk Breast Cancer
- Breast and Ovarian Cancer
|
Level 3: GI tract
Level 2: Tumour syndromes
Version 1.22
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert List
- Expert Review
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- PTEN hamartoma tumor syndrome
- Bannayan-Riley-Ruvalcaba syndrome 153480 AD
- Cowden syndrome 1 158350
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert List
- Expert Review Green
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- {Glioma susceptibility 2}, 613028
- Macrocephaly/autism syndrome, 605309
- VATER association with macrocephaly and ventriculomegaly, 76950
- {Prostate cancer, somatic}, 176807
- {Meningioma}, 607174
- Squamous cell carcinoma, head and neck, somatic, 275355
- Prostate cancer, somatic}, 176807
- Cowden Disease
- Bannayan-Riley-Ruvalcaba syndrome, 153480
- Malignant melanoma, somatic, 155600
- Cowden syndrome 1, 158350
- Endometrial carcinoma, somatic, 608089
- Cowden Syndrome
- Thyroid carcinoma, follicular, somatic, 188470
- Cowden syndrome
- Lhermitte-Duclos syndrome, 158350
- PTEN hamartoma tumor syndrome
- VATER association with macrocephaly and ventriculomegaly, 276950
|
Version 1.27
Latest signed off version: v1.2
(4 Mar 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Expert List
- UKGTN
Phenotypes
- Renal cell carcinoma (disease), MONDO:0005086
|
Version 2.11
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Expert List
Phenotypes
- Cowden syndrome 1, OMIM:158350
- Lhermitte-Duclos syndrome, OMIM:158350
- Cowden syndrome 1, MONDO:0008021
|
Version 3.12
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
- Bannayan-Riley-Ruvalcaba syndrome
- COWDEN SYNDROME 1
- Melanoma
- Cowden syndrome
- CWS1
- Epidermal naevi
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
|
Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.14
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.11
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Expert list
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Cerebral malformation
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Cowden syndrome 1 OMIM:158350
- Lhermitte-Duclos syndrome OMIM:158350
- Cowden syndrome 1 MONDO:0008021
- Macrocephaly/autism syndrome OMIM:605309
- macrocephaly-autism syndrome MONDO:0011537
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- IUIS Classification December 2019
- North West GLH
- London North GLH
- NHS GMS
- Expert Review Amber
- IUIS Classification February 2018
Phenotypes
- Recurrent infections, Lymphoproliferation, Autoimmunity
- developmental delay
- Predominantly Antibody Deficiencies
- Lymphoproliferation, Autoimmunity
|
Version 0.36
|
review
|
Not set
|
Sources
- Expert Review Green
- SFARI
Phenotypes
- ID, ADHD, EPS, DD/NDD, ASD
- Cowden syndrome, Macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
Phenotypes
- Myelodysplastic syndrome (MDS), Adult
- Myelodysplastic syndrome (MDS), Paediatric
- Acute myeloid leukaemia (AML)
|
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
- Bannayan-Riley-Ruvalcaba syndrome
- Cowden syndrome
- Epidermal naevi
- Melanoma
|
Version 1.63
Latest signed off version: v1.3
(15 Oct 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Other
Phenotypes
- Cowden syndrome 1, OMIM:158350
- capillary venous malformations
|
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
- Epidermal naevi
- Melanoma
- Cowden syndrome
- Bannayan-Riley-Ruvalcaba syndrome
Tags
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.27
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.29
Latest signed off version: v2.2
(18 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
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
- Overgrowth with Intellectual disability
- Human overgrowth syndrome type
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
Unknown
|
Sources
Phenotypes
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- MACROCEPHALY/AUTISM SYNDROME
- BANNAYAN-ZONANA SYNDROME
- PROTEUS SYNDROME
- VACTERL ASSOCIATION WITH HYDROCEPHALUS
- COWDEN DISEASE
- LHERMITTE-DUCLOS DISEASE
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
- BANNAYAN-ZONANA SYNDROME 153480
- COWDEN DISEASE 158350
- MACROCEPHALY/AUTISM SYNDROME 605309
- VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
- PROTEUS SYNDROME 176920
- LHERMITTE-DUCLOS DISEASE 158350
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
- London North GLH
Phenotypes
- Cowden syndrome 1, 158350
- multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Cowden syndrome 1 158350
- Lhermitte-Duclos syndrome
- BANNAYAN-RILEY-RUVALCABA SYNDROME
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
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, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355
- PROTEUS SYNDROME
|
Version 3.19
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Cowden syndrome 1, 158350
- Macrocephaly/autism syndrome, 605309
- Lhermitte-Duclos syndrome, 158350
- VATER association with macrocephaly and ventriculomegaly, 276950
- Dystonia
|
Version 1.81
Latest signed off version: v1.2
(18 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Amber
- Expert list
Phenotypes
- Leiomyosarcoma, MONDO:0005058
|
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
- Cowden syndrome 1, OMIM:158350
- Lhermitte-Duclos syndrome, OMIM:158350
- Macrocephaly/autism syndrome, OMIM:605309
|
Version 4.11
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Cowden syndrome 1, 158350
- multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Lhermitte-Duclos syndrome, 158350
- Cowden syndrome 1, 158350
- Macrocephaly/autism syndrome, 605309
- VATER association with macrocephaly and ventriculomegaly, 276950
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Macrocephaly/autism syndrome, 605309
- Cowden syndrome 1, 158350
- Lhermitte-Duclos syndrome, 158350
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
|