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
- posteriorly rotated, low-set, abnormal ears
- brachycephaly
- epicanthus
- heart defects
- pointed chin
- deep-set eyes
- microcephaly
- hypotonia
- seizures
- poor/absent speech
- central nervous system anomalies
- large anterior fontanels
- microbrachycephaly
- mental retardation
- growth impairment
- large, late-closing anterior fontanel
- flat nose
- nasal bridge
- developmental delay
- hearing impairment
- distinct dysmorphic features
- 1p36 deletion syndrome
- 607872
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- ClinGen
Phenotypes
- posteriorly rotated, low-set, abnormal ears
- brachycephaly
- epicanthus
- heart defects
- pointed chin
- deep-set eyes
- microcephaly
- hypotonia
- seizures
- poor/absent speech
- central nervous system anomalies
- large anterior fontanels
- microbrachycephaly
- mental retardation
- growth impairment
- large, late-closing anterior fontanel
- flat nose
- nasal bridge
- developmental delay
- hearing impairment
- distinct dysmorphic features
- 1p36 deletion syndrome
- 607872
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- ClinGen
Phenotypes
- posteriorly rotated, low-set, abnormal ears
- brachycephaly
- epicanthus
- heart defects
- pointed chin
- deep-set eyes
- microcephaly
- hypotonia
- seizures
- poor/absent speech
- central nervous system anomalies
- large anterior fontanels
- microbrachycephaly
- mental retardation
- growth impairment
- large, late-closing anterior fontanel
- flat nose
- nasal bridge
- developmental delay
- hearing impairment
- distinct dysmorphic features
- 1p36 deletion syndrome
- 607872
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
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
- posteriorly rotated, low-set, abnormal ears
- brachycephaly
- epicanthus
- heart defects
- pointed chin
- deep-set eyes
- microcephaly
- hypotonia
- seizures
- poor/absent speech
- central nervous system anomalies
- large anterior fontanels
- microbrachycephaly
- mental retardation
- growth impairment
- large, late-closing anterior fontanel
- flat nose
- nasal bridge
- developmental delay
- hearing impairment
- distinct dysmorphic features
- 1p36 deletion syndrome
- 607872
|