Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Removed
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Renal cysts and diabetes syndrome, 137920
- Diabetes mellitus, noninsulin-dependent, 125853
- {Renal cell carcinoma}, 144700
- Neonatal Diabetes
- Maturity-Onset Diabetes Of The Young
- Monogenic Diabetes
Tags
|
Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
Phenotypes
- Cholestasis
- neonatal and adult onset jaundice and cholestasis
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Renal cysts and diabetes syndrome, 137920
- Diabetes mellitus, noninsulin-dependent, 125853
- {Renal cell carcinoma}, 144700
- Renal Cysts and Diabetes Syndrome
- Maturity-Onset Diabetes Of The Young
- Transient neonatal diabetes
- RENAL CYSTS AND DIABETES SYNDROME
- RCAD
- renal malformation
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
Phenotypes
- Transient neonatal diabetes mellitus (disease), MONDO:0020525
- permanent neonatal diabetes mellitus, MONDO:0100164
- Type 2 diabetes mellitus, OMIM:125853
- transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
Tags
|
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Renal cysts and diabetes syndrome, 137920
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Renal cysts and diabetes syndrome, 137920
|
Version 1.29
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Renal cysts and diabetes syndrome (137920)
Tags
|
Version 3.3
Latest signed off version: v3.0
(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
Phenotypes
- Renal cysts and diabetes syndrome MIM 137920
- NIDDM MIM 125853
|
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, imprinted status unknown
|
Sources
- Expert Review Green
- UKGTN
- Literature
Phenotypes
- Renal cysts and diabetes syndrome
|
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
- Other
- UKGTN
- Expert Review
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Literature
Phenotypes
- Diabetes mellitus, noninsulin-dependent 125853
- Renal cysts and diabetes syndrome 137920
- {Renal cell carcinoma} 144700
|
Version 2.57
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- transient neonatal diabetes mellitus (disease), MONDO:0020525
- Type 2 diabetes mellitus, OMIM:125853
- maturity-onset diabetes of the young (disease), MONDO:0018911
|
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Renal cysts and diabetes syndrome
- Diabetes mellitus, noninsulin-dependent
|
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
- Diabetes mellitus, noninsulin-dependent 125853
- {Renal cell carcinoma} 144700
- Diabetes mellitus, noninsulin-dependent
- Renal cysts and diabetes syndrome
- Renal cysts and diabetes syndrome 137920
|
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
- RENAL CYSTS AND DIABETES SYNDROME
|
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
- RENAL CYSTS AND DIABETES SYNDROME 137920
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Renal cysts and diabetes syndrome, 137920
- Diabetes mellitus, noninsulin-dependent, 125853
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Renal cysts and diabetes syndrome, 137920
- Diabetes mellitus, noninsulin-dependent, 125853
- {Renal cell carcinoma}, 144700
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.170
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- UKGTN
- Expert list
Phenotypes
- Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
|
Version 0.8
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Expert review red
- Literature
Phenotypes
- Congenital or cystic renal disease
- MIM 137920
- Renal cysts and diabetes syndrome
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
- UKGTN
Phenotypes
- Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
|
Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Diabetes mellitus, noninsulin-dependent, 125853
- Renal cysts and diabetes syndrome, 137920
|