Version 4.21
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
- Expert Review Amber
- Expert list
Phenotypes
- Cardiac, facial, and digital anomalies with developmental delay, 618164
- Developmental Delay, Congenital Anomalies, and Dysmorphic Features
Tags
|
Version 0.36
|
review
|
Not set
|
Sources
|
Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Cardiac, facial, and digital anomalies with developmental delay 618164
Tags
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Developmental Delay, Congenital Anomalies, and Dysmorphic Features
- Cardiac, facial, and digital anomalies with developmental delay, 618164
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
|
Version 3.88
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
- Developmental Delay Congenital Anomalies and Dysmorphic Features
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Cardiac, facial, and digital anomalies with developmental delay, OMIM:618164
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review
- Literature
Phenotypes
- Cardiac, facial, and digital anomalies with developmental delay, 618164
- Global developmental delay
- Abnormal heart morphology
- Abnormality of digit
- Abnormality of limbs
Tags
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Literature
- Expert Review
Phenotypes
- Cardiac, facial, and digital anomalies with developmental delay, 618164
- Global developmental delay
- Abnormal heart morphology
- Abnormality of digit
- Abnormality of limbs
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cardiac, facial, and digital anomalies with developmental delay, 618164
|