|
Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
|
Level 3: GI tract
Level 2: Tumour syndromes
Version 1.18
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Expert Review Red
Phenotypes
- {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217)
- Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569)
- Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699)
- Polyposis Syndrome, Hereditary Mixed, 1
- Hereditary Mixed Polyposis Syndrome
Tags
|
|
Version 2.48
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Literature
Tags
- watchlist
- structural-variant
|
|
Version 1.24
Latest signed off version: v1.2
(4 Mar 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Hereditary Mixed Polyposis Syndrome
- Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569)
- Polyposis Syndrome, Hereditary Mixed, 1
- Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699)
- {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217)
|
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.92
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Not set
|
Sources
- Expert Review Red
- Expert list
|
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.112
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Unknown
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
- Expert list
- UKGTN
|
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.163
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
Not set
|
Sources
- Expert Review Red
- Expert list
|
|
Version 1.19
Latest signed off version: v1.2
(4 Mar 2020)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Unknown
|
Sources
|