Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
- Other
Phenotypes
- LADD syndrome, 149730
- Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
- short radius
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Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
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review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Emory Genetics Laboratory
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Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.27
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Bilateral Microtia
- 149730
- LADD syndrome, 149730
- lacrimo auriculo dento digital syndrome
- syndromic features
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Version 4.23
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
- Polydactyly
- Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
- LADD syndrome 149730
- LADD syndrome, 149730
- short radius
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
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
- Emory Genetics Laboratory
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
|
Version 3.169
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
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- craniosynostosis, MONDO:0015469
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Version 3.90
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
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
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
- Aplasia of lacrimal and salivary glands, 180920
- LADD syndrome, 149730
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Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- LADD syndrome, 149730
- Aplasia of lacrimal and salivary glands, 180920
|