Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10
|
review
|
Unknown
|
Sources
- Expert Review Red
- Literature
Phenotypes
|
Version 3.10
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- North West GLH
- Expert Review Red
- Brugada syndrome (Version 1.7)
- Literature
Phenotypes
- ventricular tachycardia
- Atrial fibrillation, familial, 12 (614050)
- Cardiomyopathy, dilated, 1O (608569)
- short qt
- atrial fibrillation
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- London South GLH
- North West GLH
- Wessex and West Midlands GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Cardiomyopathy, dilated, 1O
- Cardiomyopathy, dilated, 1O (608569)
- Atrial fibrillation, familial, 12 (614050)
- Dilated Cardiomyopathy, Dominant
|
Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 3.8
Latest signed off version: v3.2
(22 Mar 2023)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- North West GLH
- Literature
Phenotypes
- Brugada syndrome, MONDO:0015263
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome)
- Hypertrichotic osteochondrodysplasia 239850
|
Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.120
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Hypertrichotic osteochondrodysplasia, OMIM:239850
- Cantu syndrome
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.20
Latest signed off version: v2.8
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- UKGTN
- South West GLH
- Radboud University Medical Center, Nijmegen
- Wessex and West Midlands GLH
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- North West GLH
- Expert list
- Emory Genetics Laboratory
- South West GLH
- London South GLH
- North West GLH
- Wessex and West Midlands GLH
Phenotypes
- Cardiomyopathy, dilated, 1O (608569)
- Dilated Cardiomyopathy, Dominant
- Cardiomyopathy, dilated, 1O
- Atrial fibrillation, familial, 12 (614050)
|
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
- CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- hypertrichotic osteochondrodysplasia, Cantu syndrome 239850
|
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
- CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
|
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, NOT imprinted
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Intellectual disability and myopathy syndrome, OMIM:619719
- intellectual disability and myopathy syndrome, MONDO:0859224
Tags
- Q1_24_MOI
- Q1_24_NHS_review
|
Version 3.43
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- South West GLH
- Expert Review Green
Phenotypes
- Dilated Cardiomyopathy, Dominant
- Cardiomyopathy, dilated, 1O
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cardiomyopathy, dilated, 1O, 608569
- Hypertrichotic osteochondrodysplasia, 239850
- Atrial fibrillation, familial, 12, 614050
|