|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
|
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- ClinGen
Phenotypes
- Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
|
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.7
Latest signed off version: v3.6
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
|
|
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
- Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
|