|
Version 0.11
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- ClinGen
Phenotypes
- Familial thoracic aortic aneurysm and aortic dissection
|
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Green
- Other
Phenotypes
- Frontometaphyseal dysplasia 1, OMIM:305620
- Melnick-Needles syndrome, OMIM:309350
- Otopalatodigital syndrome, type I, OMIM:311300
- Otopalatodigital syndrome, type II, OMIM:304120
- Terminal osseous dysplasia, OMIM:300244
|
|
Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3
|
review
|
Not set
|
Sources
|
|
Level 2: Viral research
Version 1.142
|
review
|
Unknown
|
Sources
|
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Congenital short bowel syndrome, OMIM:300048
- Intestinal pseudoobstruction, neuronal, OMIM:300048
|
|
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- NHS GMS
- Expert Review Amber
- Literature
Phenotypes
- Otopalatodigital syndrome, type II, OMIM:304120
|
|
Version 4.21
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Green
- London South East RGC GSTT
- Viapath
Phenotypes
- Frontometaphyseal dysplasia 1, OMIM:305620
- Melnick-Needles syndrome, OMIM:309350
- Otopalatodigital syndrome, type I, OMIM:311300
- Otopalatodigital syndrome, type II, OMIM:304120
- Terminal osseous dysplasia, OMIM:300244
|
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Congenital short bowel syndrome, OMIM:300048
- Intestinal pseudoobstruction, neuronal, OMIM:300048
- ?FG syndrome 2, OMIM:300321
|
|
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
Phenotypes
- Terminal osseous dysplasia, OMIM:300244
|
|
Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Heterotopia, periventricular, 1, OMIM:300049
- Macrothrombocytopenia
|
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Heterotopia, periventricular, 1, OMIM:300049
Tags
|
|
Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Cardiac valvular dysplasia, X-linked, OMIM:314400
|
|
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Green
- South West GLH
- London South GLH
- South West GLH
- London South GLH
Phenotypes
- Cardiac valvular dysplasia, X-linked, OMIM:314400
- Heterotopia, periventricular, 1, OMIM:300049
|
|
Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- South West GLH
- London South GLH
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
Phenotypes
- Cardiac valvular dysplasia, X-linked, OMIM:314400
- Heterotopia, periventricular, 1, OMIM:300049
|
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Frontometaphyseal dysplasia 1, OMIM:305620
- Otopalatodigital syndrome, type I, OMIM:311300
- Otopalatodigital syndrome, type II, OMIM:304120
- Terminal osseous dysplasia, OMIM:300244
|
|
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
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Frontometaphyseal dysplasia 1, OMIM:305620
- Melnick-Needles syndrome, OMIM:309350
- Otopalatodigital syndrome, type I, OMIM:311300
- Otopalatodigital syndrome, type II, OMIM:304120
- Terminal osseous dysplasia, OMIM:300244
|
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Heterotopia, periventricular, 1, OMIM:300049
- Macrothrombocytopenia
|
|
Version 3.33
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
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
- Heterotopia, periventricular, 1, OMIM:300049
- Macrothrombocytopenia
|
|
Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Cardiac valvular dysplasia, X-linked, OMIM:314400
- Heterotopia, periventricular, 1, OMIM:300049
|
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- TERMINAL OSSEOUS DYSPLASIA
- OTOPALATODIGITAL SYNDROME TYPE 1
- EPILEPTIC ENCEPHALOPATHY
- MELNICK-NEEDLES SYNDROME
- PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1
- FG SYNDROME TYPE 2
- X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION
- OTOPALATODIGITAL SYNDROME TYPE 2
- FRONTOMETAPHYSEAL DYSPLASIA
|
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Frontometaphyseal dysplasia 1, OMIM:305620
- Melnick-Needles syndrome, OMIM:309350
- Otopalatodigital syndrome, type I, OMIM:311300
- Otopalatodigital syndrome, type II, OMIM:304120
|
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
Tags
|
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049
- FRONTOMETAPHYSEAL DYSPLASIA 305620
- FG SYNDROME TYPE 2 300321
- X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048
- MELNICK-NEEDLES SYNDROME 309350
- Childhood Interstitial Lung Disease
- EPILEPTIC ENCEPHALOPATHY
- OTOPALATODIGITAL SYNDROME TYPE 1 311300
- OTOPALATODIGITAL SYNDROME TYPE 2 304120
- TERMINAL OSSEOUS DYSPLASIA 300244
Tags
|
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Frontometaphyseal dysplasia 1, OMIM:305620
- Melnick-Needles syndrome, OMIM:309350
- Otopalatodigital syndrome, type I, OMIM:311300
- Otopalatodigital syndrome, type II, OMIM:304120
|
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- North West GLH
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Heterotopia, periventricular OMIM:300049
|
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- NHS GMS
- Expert Review Red
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Heterotopia, periventricular, 1, OMIM:300049
- Otopalatodigital syndrome, type II, OMIM:304120
- ?FG syndrome 2, OMIM:300321
|
|
Version 1.184
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Melnick-Needles syndrome, 309350
- Congenital short bowel syndrome, 300048
- Terminal osseous dysplasia, 300244
- Intestinal pseudoobstruction, neuronal, 300048
- ?FG syndrome 2, 300321
- Otopalatodigital syndrome, type II, 304120
- Heterotopia, periventricular, 1, 300049
- Cardiac valvular dysplasia, X-linked, 314400
- Frontometaphyseal dysplasia 1, 305620
- Otopalatodigital syndrome, type I, 311300
|
|
Version 1.5
Latest signed off version: v1.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Congenital short bowel syndrome, OMIM:300048
- Intestinal pseudoobstruction, neuronal, OMIM:300048
|