Level 2: Viral research
Version 1.141
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review
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Unknown
|
Sources
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
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review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Epstein syndrome
- Fechtner syndrome
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Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- May-Hegglin and other MYH9 disorders
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- May-Hegglin anomaly, 155100Fechtner syndrome, 153640Sebastian syndrome, 605249Deafness, autosomal dominant 17, 603622Epstein syndrome, 153650Macrothrombocytopenia and progressive sensorineural deafness, 600208
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Epstein syndrome 153650
- Fechtner syndrome 153640
|
Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
|
Version 3.32
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Expert review Amber
- North West GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- NHS GMS
- London South GLH
Phenotypes
- Macrothrombocytopenia, 155100
|
Version 3.40
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
Phenotypes
- Epstein syndrome 153650
- Fechtner syndrome 153640
|
Version 3.155
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
- SEBASTIAN SYNDROME
- DEAFNESS AUTOSOMAL DOMINANT TYPE 17
- EPSTEIN SYNDROME
- FECHTNER SYNDROME
- MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS
- MAY-HEGGLIN ANOMALY
|
Version 3.87
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
- DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622
- SEBASTIAN SYNDROME 155100
- MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100
- EPSTEIN SYNDROME 155100
- MAY-HEGGLIN ANOMALY 155100
- FECHTNER SYNDROME 155100
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.36
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Nonsyndromic Hearing Loss, Dominant
- May-Hegglin anomaly, 155100
- Fechtner syndrome, 153640
- Sebastian syndrome, 605249
- Deafness, autosomal dominant 17, 603622
- Epstein syndrome, 153650
- Macrothrombocytopenia and progressive sensorineural deafness, 600208
|
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
- Eligibility statement prior genetic testing
Phenotypes
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.531
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 Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- May-Hegglin anomaly, 155100
- Fechtner syndrome, 153640
- Sebastian syndrome, 605249
- Deafness, autosomal dominant 17, 603622
- Epstein syndrome, 153650
- Macrothrombocytopenia and progressive
- sensorineural deafness, 600208
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Epstein Syndrome, 153650
- Fechtner syndrome, 153640
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Epstein syndrome #153650
- Fechtner syndrome #153640
|
Version 0.8
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Expert review red
- Literature
Phenotypes
- Fechtner syndrome
- Epstein syndrome
- Nephropathy of unknown origin
- 153640
- MIM 153650
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Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100
- Deafness, autosomal dominant 17, 603622
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