Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11
|
review
|
Not set
|
Sources
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
Phenotypes
- [High density lipoprotein cholesterol level QTL 12], 612797
- {Diabetes mellitus, noninsulin-dependent}, 125853
- Hepatic lipase deficiency, 614025
Tags
|
Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
Not set
|
Sources
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
Phenotypes
- [High density lipoprotein cholesterol level QTL 12], 612797
- {Diabetes mellitus, noninsulin-dependent}, 125853
- Hepatic lipase deficiency, 614025
Tags
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- [High density lipoprotein cholesterol level QTL 12], 612797
- {Diabetes mellitus, noninsulin-dependent}, 125853
- Hepatic lipase deficiency, 614025
|
Version 2.58
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
Unknown
|
Sources
Phenotypes
- Hepatic lipase deficiency, 614025
- [High density lipoprotein cholesterol level QTL 12], 612797
- {Diabetes mellitus, noninsulin-dependent}, 125853
Tags
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Hepatic lipase deficiency, 614025
- [High density lipoprotein cholesterol level QTL 12] 612797
- {Diabetes mellitus, noninsulin-dependent} 125853
|
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
- Expert Review Amber
- London North GLH
- NHS GMS
Phenotypes
- Hepatic lipase deficiency, 614025
- [High density lipoprotein cholesterol level QTL 12] 612797
- {Diabetes mellitus, noninsulin-dependent} 125853
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|