Level 2: Viral research
Version 1.142
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- ClinGen
- Expert Review Green
Phenotypes
- 188400
- clefting
- Velocardiofacial syndrome
- neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
- cardiac malformations
- Hearing deficits
- DiGeorge syndrome
- micrognathia
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- 188400
- neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
- micrognathia
- clefting
- Hearing deficits
- Velocardiofacial syndrome
- cardiac malformations
- DiGeorge syndrome
|
Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- 188400
- neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
- micrognathia
- clefting
- Hearing deficits
- Velocardiofacial syndrome
- cardiac malformations
- DiGeorge syndrome
|
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, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- 188400
- neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
- micrognathia
- clefting
- Hearing deficits
- Velocardiofacial syndrome
- cardiac malformations
- DiGeorge syndrome
|
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 Green
- ClinGen
Phenotypes
- micrognathia
- neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
- clefting
- DiGeorge syndrome
- Velocardiofacial syndrome
- 188400
- cardiac malformations
- Hearing deficits
|
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
- ClinGen
Phenotypes
- neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
- micrognathia
- clefting
- Hearing deficits
- Velocardiofacial syndrome
- cardiac malformations
- DiGeorge syndrome
|