Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
Phenotypes
- distal renal tubular acidosis
- Renal tubular acidosis, distal, AD, 179800
- Renal tubular acidosis, distal, AR 611590
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Version 1.28
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Radboud University Medical Center, Nijmegen, Expert list
Phenotypes
- Renal tubular acidosis, distal, AR (611590)
- Renal tubular acidosis, distal, AD (179800)
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Haemolytic Anemia
- RBC membrane abnormality
- Cryohydrocytosis,185020
- Ovalocytosis, SA type, 166900
- Spherocytosis, type 4, 612653
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Version 3.8
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
- 612653 Spherocytosis, type 4
- Ovalocytosis, SA type, 166900
- 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis
- Spherocytosis, type 4, 612653
- Cryohydrocytosis,185020
- RBC membrane abnormality
- Haemolytic Anemia
- 166900 Ovalocytosis, SA type
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Version 3.39
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Amber
Phenotypes
- Renal tubular acidosis, distal, AR 611590
- distal renal tubular acidosis
- Renal tubular acidosis, distal, AD, 179800
Tags
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- RENAL TUBULAR ACIDOSIS, DISTAL, AR
- RENAL TUBULAR ACIDOSIS, DISTAL, AD
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Version 3.79
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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800
- RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.17
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Distal Renal Tubular Acidosis, Dominant
- Ovalocytosis
- Distal renal tubular acidosis
- Renal tubular acidosis, distal, AD,179800
- Renal tubular acidosis, distal, AR, 611590
- Cryohydrocytosis, 185020
- Ovalocystois, SA type 166900
- Spherocytoisis type 4, 612653
- various blood group associations.
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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
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Ovalocytosis
- Spherocytosis, type 4, 612653
- [Malaria, resistance to], 611162
- Renal tubular acidosis, distal, AD, 179800
- Renal tubular acidosis, distal, AR, 611590
- [Blood group, Diego], 110500
- [Blood group, Waldner], 112010
- [Blood group, Wright], 112050
- [Blood group, Froese], 601551
- [Blood group, Swann], 601550
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Version 0.8
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- Expert review red
- Literature
Phenotypes
- Tubulointerstitial disease
- Renal tubular acidosis distal, autosomal dominant
- MIM 179800
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Version 1.182
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Renal tubular acidosis, distal, AR, 611590
- Cryohydrocytosis, 185020
- Spherocytosis, type 4, 612653
- Ovalocytosis, SA type, 166900
- Renal tubular acidosis, distal, AD, 179800
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