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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
Phenotypes
- distal renal tubular acidosis
- Renal tubular acidosis with deafness 267300
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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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Amber
Phenotypes
- Renal tubular acidosis with deafness 267300
- distal renal tubular acidosis
Tags
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS
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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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- hearing loss
- Distal Renal Tubular Acidosis with Progressive Nerve Deafness
- Renal tubular acidosis with deafness, 267300
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Renal tubular acidosis with deafness, 267300
- Distal Renal Tubular Acidosis with Progressive Nerve Deafness
- Distal renal tubular acidosis
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Renal tubular acidosis with deafness, 267300
|
Version 0.8
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert review red
- Literature
Phenotypes
- Tubulointerstitial disease
- MIM 267300
- Renal tubular acidosis with deafness
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Renal tubular acidosis with deafness, 267300
|