Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Other
Phenotypes
- Cole disease, 615522 (includes punctate palmoplantar keratoderma)
|
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
- Ossification of posterior longitudinal ligament of spine, 602475
- {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853
- {Obesity, susceptibility to}, 601665
- Arterial calcification, generalized, of infancy, 1, 208000
- Hypophos
Tags
|
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
- Ossification of posterior longitudinal ligament of spine, 602475
- {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853
- {Obesity, susceptibility to}, 601665
- Arterial calcification, generalized, of infancy, 1, 208000
- Hypophos
Tags
|
Version 3.28
Latest signed off version: v3.2
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
|
Version 3.4
Latest signed off version: v3.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Expert list
Phenotypes
- Hypophosphatemic rickets, autosomal recessive, 2 (613312)
|
Version 3.25
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
|
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Cole disease
- COLED
- COLE DISEASE
|
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
- Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos
Tags
|
Version 2.57
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
Unknown
|
Sources
Phenotypes
- Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos
Tags
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Hypophosphatemic rickets, autosomal recessive, 2 613312
- Arterial calcification, generalized, of infancy, 1 208000
- Cole disease 615522
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Arterial calcification, generalized, of infancy, 1, OMIM:208000
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312
- ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853
- {Obesity, susceptibility to}, 601665
- Arterial calcification, generalized, of infancy, 1, 208000
- Hypophosphatemic rickets, autosomal recessive, 2, 613312
- Cole disease, 615522
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Arterial calcification, generalized, of infancy, 1, 208000
- Cole disease, 615522
- Hypophosphatemic rickets, autosomal recessive, 2, 613312
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
|