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
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Sources
Phenotypes
- Liebenberg syndrome
- Radially deviated wrists
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Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
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review
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Not set
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Sources
- Emory Genetics Laboratory
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Version 4.19
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- London South East RGC GSTT
- Viapath
Phenotypes
- Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
- Liebenberg syndrome 186550
- Polydactyly
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Version 0.36
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review
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Not set
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Sources
|
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
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
- Liebenberg syndrome 186550
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800
- Clubfoot, MONDO:0007342
- Liebenberg syndrome, OMIM:186550
- Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520
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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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- CONGENITAL CLUBFOOT 119800
- HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800
- Liebenberg syndrome, 186550
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