Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
Phenotypes
- Fontaine progeroid syndrome, OMIM
- 612289
- Fontaine progeroid syndrome, MONDO:0012853
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Fontaine progeroid syndrome, OMIM
- 612289
- Fontaine progeroid syndrome, MONDO:0012853
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Fontaine progeroid syndrome, OMIM
- 612289
- Fontaine progeroid syndrome, MONDO:0012853
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Gorlin-Chaudhry-Moss syndrome (GCMS)
- Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
Not set
|
Sources
- Victorian Clinical Genetics Services
Phenotypes
- Fontaine progeroid syndrome, OMIM
- 612289
- Fontaine progeroid syndrome, MONDO:0012853
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Fontaine progeroid syndrome, OMIM
- 612289
- Fontaine progeroid syndrome, MONDO:0012853
|
Version 3.79
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Fontaine progeroid syndrome, OMIM
- 612289
- Fontaine progeroid syndrome, MONDO:0012853
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Fontaine progeroid syndrome, OMIM
- 612289
- Fontaine progeroid syndrome, MONDO:0012853
|