Version 4.21
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Expert Review Red
- Victorian Clinical Genetics Services
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- UKGTN
Phenotypes
- Frontonasal dysplasia 1 136760 (frontorhiny)
- Frontonasal dysplasia 1 136760
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FRONTONASAL DYSPLASIA TYPE 1
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
Phenotypes
- Frontonasal dysplasia type 1 (frontorhiny)
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FRONTONASAL DYSPLASIA TYPE 1 136760
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- FRONTONASAL DYSPLASIA 1
- FND1
- Frontorhiny
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Gene2Phenotype confirmed gene with ID HPO
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
Phenotypes
- Frontonasal Dysplasia 1, FND1, 136760
|
Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 3.11
Latest signed off version: v3.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Frontonasal dysplasia 1 136760
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Frontonasal dysplasia 1, 136760
|