|
Version 0.36
|
review
|
Not set
|
Sources
- Expert Review Amber
- SFARI
|
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
|
Sources
|
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- PITT HOPKINS 2
- AUTISM 209850
|
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- UKGTN
- Expert
Phenotypes
- Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR)
- Complex neurodevelopmental disorder (AD)
|
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR)
- Complex neurodevelopmental disorder (AD)
|
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Pitt-Hopkins-like syndrome 2, 614325
|