Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.4
|
review
|
Not set
|
Sources
Phenotypes
- Pituitary Cancer, Parathyroid and Hypercalcemia
|
Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.29
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hypocalciuric hypercalcemia, type I, 145980
|
Version 2.9
Latest signed off version: v2.2
(3 Mar 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Hypocalciuric hypercalcemia, type I, OMIM:145980
|
Level 3: Disorders of calcium homeostasis
Level 2: Endocrine disorders
Version 2.5
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hyperparathyroidism, neonatal, 239200
- Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198
|
Version 2.22
Latest signed off version: v2.3
(3 Mar 2020)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperparathyroidism, neonatal, OMIM:239200
- Hypocalcemia, autosomal dominant, OMIM:601198
- Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198
- Hypocalciuric hypercalcemia, type I, OMIM:145980
- Familial isolated hyperparathyroidism
- FHH1
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.36
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Familial Hypocalciuric Hypercalcemia
- Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,
- Hypocalcemia (dominant)
- Familial Hypocalciuric Hypercalcemia (dominant)
- hypocalciuric hypercalcaemia
|
Version 2.16
Latest signed off version: v2.2
(3 Mar 2020)
|
review
|
Not set
|
Sources
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.208
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Hypocalcemia, autosomal dominant 601198
- Hypocalciuric hypercalcemia, type I 145980
- Hyperparathyroidism, neonatal 239200
- Hypocalcemia, autosomal dominant, with Bartter syndrome 601198
|
Version 1.880
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Hypocalcemia, autosomal dominant, 601198
- Hypocalciuric hypercalcemia, type I, 145980
- Hyperparathyroidism, neonatal, 239200
- Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.48
Latest signed off version: v2.2
(13 Feb 2020)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- neonatal severe hyperparathyroidism 239200
- severe hypercalcemia, bone demineralization, multiple fractures
- familial hypocalciuric hypercalcemia
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.62
Latest signed off version: v2.23
(16 Oct 2020)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198
- Hypocalciuric hypercalcemia, type I, 145980
- Hyperparathyroidism, neonatal, 239200
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.558
Latest signed off version: v2.2
(13 Feb 2020)
|
review
|
Not set
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899Hypercalciuric hypercalcemia{Calcium, serum level of}
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Hypocalciuric hypercalcemia, type I, 145980
|
Version 1.127
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hyperparathyroidism, neonatal, 239200
- Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198
- Hypocalciuric hypercalcemia, type I, 145980
- Hypocalcemia, autosomal dominant, 601198
|