Level 2: Viral research
Version 1.141
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- IUIS Classification February 2018
- IUIS Classification December 2019
- GRID V2.0
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Congenital defects of phagocyte number or function
- neutrophil dysfunction
- Mental retardation, short stature
- Actin beta deficiency (ACTB)
- Phagocytic disorder
- Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia
- Baraitser-Winter syndrome 1, 243310
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
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review
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Not set
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Dystonia, juvenile-onset OMIM:607371
- developmental malformations-deafness-dystonia syndrome MONDO:0011823
- Baraitser-Winter syndrome 1 OMIM:243310
- Baraitser-Winter syndrome 1 MONDO:0009470
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Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.176
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Literature
Phenotypes
- Baraitser-Winter syndrome 1 with macrothrombocytopenia
- Platelet disorder
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.25
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
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review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review
Phenotypes
- Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma)
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Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Red
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Actin beta deficiency (ACTB)
- Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia
- neutrophil dysfunction
- Phagocytic disorder
- Mental retardation, short stature
- Baraitser-Winter syndrome 1, 243310
- Congenital defects of phagocyte number or function
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Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.46
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- UKGTN
Phenotypes
- Baraitser-Winter syndrome 1, 243310
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Version 2.41
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- North West GLH
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- thrombocytopenia, MONDO:0002049 (AD)
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Version 3.27
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
Phenotypes
- Baraitser-Winter syndrome 1 with macrothrombocytopenia
- Baraitser-Winter syndrome 1, 243310
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Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
Unknown
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Sources
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- BARAITSER-WINTER SYNDROME
- ACTB Haploinsufficiency syndtome
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Baraitser-Winter syndrome 1, OMIM:243310
- Baraitser-Winter syndrome 1, MONDO:0009470
Tags
|
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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- BARAITSER-WINTER SYNDROME
- ACTB Haploinsufficiency syndtome
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Expert
- Radboud University Medical Center, Nijmegen
Phenotypes
- Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
- Dystonia, juvenile onset, 607371
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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
- BARAITSER-WINTER SYNDROME 1
- BRWS1
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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, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
- BARAITSER-WINTER SYNDROME
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Baraitser-Winter syndrome 1, 243310
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- South West GLH
Phenotypes
- Dystonia, juvenile-onset, OMIM:607371
- developmental malformations-deafness-dystonia syndrome MONDO:0011823
- Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- South West GLH
Phenotypes
- ?Dystonia, juvenile-onset
- Baraitser-Winter syndrome 1, 243310
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Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Baraitser-Winter syndrome 1, 243310
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