Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Not set
|
Sources
- Imerslund-Grasbeck syndrome eligibility statement prior genetic testing
Phenotypes
- GIF mutations may phenocopy this disorder
- (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- London South GLH
Phenotypes
- 261000 Intrinsic factor deficiency
Tags
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Version 3.41
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Unknown
|
Sources
Phenotypes
- GIF mutations may phenocopy this disorder
- (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Intrinsic factor deficiency 261000
Tags
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Intrinsic factor deficiency
Tags
|
Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
Not set
|
Sources
- NHS GMS
- Expert Review Red
- Imerslund-Grasbeck syndrome eligibility statement prior genetic testing
Phenotypes
- GIF mutations may phenocopy this disorder
- (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Intrinsic factor deficiency, 261000
Tags
|