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Version 4.21
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert list
- Expert Review Green
- London South East RGC GSTT
- Viapath
Phenotypes
- ?Split-hand/foot malformation 1 with sensorineural hearing loss, OMIM:220600
- Split-hand/foot malformation 1, OMIM:183600
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- ?Split-hand/foot malformation 1 with sensorineural hearing loss, OMIM:220600
- Split-hand/foot malformation 1, OMIM:183600
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|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600
- Split-hand/foot malformation 1, 183600
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|
Version 3.88
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 Red
Phenotypes
- SPLIT HAND AND FOOT MALFORMATION 220600
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
|
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600
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