Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
|
review
|
Not set
|
Sources
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert list
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- ?Bardet-Biedl syndrome 11
- 615988
|
Version 19.201
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy, limb-girdle, type 2H, 254110
- Limb-girdle muscular dystrophy
- Limb-Girdle Muscular Dystrophy, Recessive
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.19
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Version 4.16
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Victorian Clinical Genetics Services
Phenotypes
- Bardet-Biedl syndrome 11, 615988
- Polydactyly
|
Version 2.4
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110
- ?Bardet-Biedl syndrome 11, 615988
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 4.24
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
Not set
|
Sources
Phenotypes
- Ciliopathy genes associated with cystic kidney disease
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Not set
|
Sources
Phenotypes
- Ciliopathy genes associated with cystic kidney disease
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.32
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy, limb-girdle, type 2H, 254110
- Limb-girdle muscular dystrophy
|
Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.41
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.53
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Bardet-Biedl syndrome 11, 615988
- Polydactyly
|
Version 3.39
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Unknown
|
Sources
Phenotypes
- Ciliopathy genes associated with cystic kidney disease
|
Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H
- BARDET-BIEDL SYNDROME TYPE 11
|
Version 3.79
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
- BARDET-BIEDL SYNDROME TYPE 11 209900
- LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H 254110
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
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
Phenotypes
- Bardet-Biedl syndrome 11, 615988
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
Phenotypes
- Bardet-Biedl syndrome 11, OMIM:615988
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Bardet-Biedl syndrome 11, 615988
- Muscular dystrophy, limb-girdle, type 2H, 254110
- Eye Disorders
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.169
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Muscular dystrophy, limb-girdle, type 2H, 254110
- ?Bardet-Biedl syndrome 11, 615988
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- UKGTN
- Expert Review Red
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Bardet-Biedl syndrome 11, 615988
- Muscular dystrophy, limb-girdle, type 2H, 254110
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- UKGTN
- Expert Review Red
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Bardet-Biedl syndrome 11, 615988
- Muscular dystrophy, limb-girdle, type 2H, 254110
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.21
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Bardet-Biedl syndrome 11, 615988
- Muscular dystrophy, limb-girdle, type 2H, 254110
Tags
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Bardet-Biedl syndrome 11, 615988
- Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110
|