Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
- Other
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Duane-radial ray syndrome, 607323
- IVIC syndrome, 147750
|
Level 3: Choanal anomalies
Level 2: Skeletal disorders
Version 1.16
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Other
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Duane-radial ray syndrome 607323
|
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, imprinted status unknown
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Familial hemifacial microsomia with abnormal thumbs
- hearing loss panel
- Duane-radial ray syndrome, 607323
- SALL4-Related Spectrum Dis
|
Version 4.18
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
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- London South East RGC GSTT
- Viapath
Phenotypes
- Polydactyly
- IVIC syndrome, 147750
- Radial Ray abnormality
- IVIC syndrome 147750
- Duane-radial ray syndrome, 607323
- Okihiro (Duane-radial ray) syndrome 607323
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Duane-radial ray syndrome, 607323
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
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
- Okihiro (Duane-radial ray) syndrome 607323
- IVIC syndrome 147750
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.175
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Duane-radial ray syndrome, 607323
|
Version 3.155
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
- DUANE-RADIAL RAY SYNDROME
- ACRO-RENAL-OCULAR SYNDROME
|
Version 3.87
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
- ACRO-RENAL-OCULAR SYNDROME 607323
- DUANE-RADIAL RAY SYNDROME 607323
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.36
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
- hearing loss
- Duane-radial ray syndrome 607323
- IVIC syndrome 147750
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
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
Phenotypes
- DUANE-RADIAL RAY SYNDROME
- DRRS
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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 Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Duane-radial ray syndrome, 607323
- IVIC syndrome, 147750
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Duane-radial ray syndrome, 607323
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- IVIC syndrome, 147750
- Duane-radial ray syndrome, 607323
|