Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Synpolydactyly, type II, 186000
Tags
- nucleotide-repeat-expansion
|
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
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- Expert list
- London South East RGC GSTT
- Viapath
Phenotypes
- Brachydactyly-syndactyly syndrome 610713
- Brachydactyly, type D 113200
- Brachydactyly, type E 113300
- Syndactyly, type V 186300
- Synpolydactyly 1 186000
- Polydactyly
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
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
- UKGTN
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Syndactyly, type V 186300
- Brachydactyly-syndactyly syndrome 610713
- Brachydactyly, type E 113300
- Synpolydactyly 1 186000
- Brachydactyly, type D 113200
Tags
- nucleotide-repeat-expansion
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
|
Version 3.146
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
- SYNPOLYDACTYLY 1
- BRACHYDACTYLY TYPE D
- BRACHYDACTYLY-SYNDACTYLY SYNDROME
- BRACHYDACTYLY TYPE E
- VACTERL ASSOCIATION
- SYNDACTYLY TYPE 5
|
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
- BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713
- VACTERL ASSOCIATION 192350
- BRACHYDACTYLY TYPE E 113300
- SYNPOLYDACTYLY 1 186000
- SYNDACTYLY TYPE 5 186300
- BRACHYDACTYLY TYPE D 113200
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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
- Synpolydactyly, type II, 186000
- Brachydactyly, type E, 113300
- Brachydactyly, type D, 113200
- Synpolydactyly with foot anomalies, 186000
- Syndactyly, type V, 186300
- Brachydactyly-syndactyly syndrome, 610713
- ?VACTERL association, 192350
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Brachydactyly-syndactyly syndrome, 610713
- Synpolydactyly 1, 186000
- Syndactyly, type V, 186300
- Brachydactyly, type E, 113300
- Brachydactyly, type D, 113200
|