Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.23
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
- Other
- UKGTN
Phenotypes
- Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480
|
Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
|
Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.22
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
Phenotypes
- Bilateral Microtia
- 107480
- Familial hemifacial microsomia with abnormal thumbs or anal anomaly
- Bilateral Microtia, 107480
- Townes-Brocks Syndrome, 107480
- Hearing loss panel
|
Version 4.16
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- London South East RGC GSTT
- Viapath
Phenotypes
- Radial Ray abnormality
- Polydactyly
- Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480
- Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Townes-Brocks syndrome, 107480
- Townes-Brocks branchiootorenal-like syndrome, 107480
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- UKGTN
- Emory Genetics Laboratory
Phenotypes
- Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.173
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Townes-Brocks syndrome, 107480
- Townes-Brocks branchiootorenal-like syndrome, 107480
- imperforate anus, ear abnormalities, thumb abnormalities
|
Version 3.39
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert Review Green
Phenotypes
- imperforate anus, ear abnormalities, thumb abnormalities
- Townes-Brocks branchiootorenal-like syndrome, 107480
- Townes-Brocks syndrome, 107480
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.8
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Townes-Brocks syndrome 1 107480
|
Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- TOWNES-BROCKS SYNDROME 107480
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- #107480:Townes-Brocks syndrome
- Townes-Brocks branchiootorenal-like syndrome
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
Phenotypes
- Townes-Brocks branchiootorenal-like syndrome, 107480
- Townes-Brocks syndrome 1, 107480
- TBS
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Townes-Brocks branchiootorenal-like syndrome, 107480
|
Version 0.8
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Expert review red
- Literature
Phenotypes
- Townes-Brocks syndrome 1
- Glomerulopathy
- MIM 107480
|
Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Townes-Brocks branchiootorenal-like syndrome, 107480
- Townes-Brocks syndrome 1, 107480
|