Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118
Component of the following Super Panels:
Renal superpanel - broad
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Expert list
Phenotypes
- {Congenital anomalies of kidney and urinary tract, susceptibility to} 610805
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Spastic paraplegia 23, 270750
Tags
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Version 4.42
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Other
Phenotypes
- Spastic paraplegia 23, 270750
- ongenital anomalies of kidney and urinary tract 1, 610805, AD
- Spastic paraplegia 23, 270750, AR
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Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- Yorkshire and North East GLH
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Spastic paraplegia 23, 270750, AR
- Spastic paraplegia 23, 270750
- Congenital anomalies of kidney and urinary tract 1, 610805, AD
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Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.175
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
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review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Renal hypodysplasia
- ureteropelvic junction obstruction
- vesicoureteric reflux
- CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
- {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805
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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
- Expert Review Green
- Expert Review Green
Phenotypes
- Renal hypodysplasia
- {Congenital anomalies of kidney and urinary tract, susceptibility to}
- CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
- ureteropelvic junction obstruction
- {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805
- vesicoureteric reflux
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
Phenotypes
- Spastic paraplegia 23, 270750
Tags
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805
- Autosomal Recessive Complicated Spastic Paraparesis SPG23
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Spastic paraplegia 23, 270750
- Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- {Congenital anomalies of kidney and urinary tract, susceptibility
- to}, 610805
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
- Spastic paraplegia 23, 270750
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Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spastic paraplegia 23, 270750
- Congenital anomalies of kidney and urinary tract 1, 610805
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