|
Version 0.11
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- ClinGen
Phenotypes
- Familial thoracic aortic aneurysm and aortic dissection
|
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
|
review
|
Not set
|
Sources
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
|
|
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
- Other
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- {Hemorrhage, intracerebral, susceptibility to}, 614519
- Brain Small Vessel Disease with Hemorrhage
- {Hemorrhage, intracerebral, susceptibility to}
- Brain small vessel disease with or without ocular anomalies
|
|
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
- Literature
Phenotypes
- Brain small vessel disease with or without ocular anomalies, OMIM:175780
|
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- walker warburg syndrome, muscle eye brain disease
|
|
Version 3.35
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
- Porencephaly 1
|
|
Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.17
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Radboud University Medical Center, Nijmegen
- UKGTN
- Literature
Phenotypes
- Cerebral Small Vessel Disease
- stroke
- migraine
- Axenfeld-Rieger Anomaly
- cognitive impairment
- dementia
- seizures
- myopathy
- infantile hemiparesis
- developmental delay
- Porencephaly 1 175780
- {Hemorrhage, intracerebral, susceptibility to} 614519
|
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Brain small vessel disease with or without ocular anomalies
- complex ocular phenotypes involving microphthalmia
- Congenital cataracts
|
|
Version 3.24
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773
- Brain small vessel disease with or without ocular anomalies, 175780
|
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
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 Amber
- Literature
Phenotypes
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773
- Brain small vessel disease with or without ocular anomalies, OMIM:175780
- Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564
- {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Tags
- Q4_23_promote_green
- Q4_23_NHS_review
|
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 4.24
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- Exophytic renal cysts
- raised creatinine kinase
- tortuous retinal vessels
- intracranial anuerysms
- haematuria
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
|
|
Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.35
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Porencephaly 1
- Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
|
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Literature
|
|
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- South West GLH
- South West GLH
Phenotypes
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773
- Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps
|
|
Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773
|
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.23
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
- London South GLH
- Expert Review
Phenotypes
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773
- autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726
Tags
- Q3_23_promote_green
- Q3_23_NHS_review
|
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Expert Review
Phenotypes
- walker warburg syndrome, muscle eye brain disease
|
|
Version 3.41
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert Review Green
Phenotypes
- raised creatinine kinase
- tortuous retinal vessels
- intracranial anuerysms
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
- Exophytic renal cysts
- haematuria
|
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Brain small vessel disease with or without ocular anomalies, OMIM:175780
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773
- Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564
- {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
|
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
|
|
Version 3.88
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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
|
|
Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 2.13
Latest signed off version: v2.4
(15 Oct 2020)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert Review
Phenotypes
- Exophytic renal cysts
- haematuria
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773
|
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
|
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
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
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert
Phenotypes
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
- Brain small vessel disease with or without ocular anomalies 607595
- Porencephaly 1 175780
- Schizencephaly 269160
|
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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
- Radboud University Medical Center, Nijmegen
Phenotypes
- Porencephaly 1, 175780Brain small vessel disease with hemorrhage, 607595Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773Brain small vessel disease with Axenfeld-Rieger anomaly, 607595{Hemorrhage, intracerebral, susceptibility to}, 614519
- PORENCEPHALY 1
|
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
|
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780
|
|
Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
Not set
|
Sources
Phenotypes
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773
|
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773
- Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564
- Brain small vessel disease with or without ocular anomalies, 175780
- ?Retinal arteries, tortuosity of, 180000
|