Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Feingold syndrome
- Feingold syndrome 2, 614326
- FS2
- Brachydactyly with short stature and microcephaly
Tags
- locus-type-rna-long-non-coding
- deletions
- watchlist
|
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Expert Review Amber
- London South East RGC GSTT
- Viapath
Phenotypes
- Feingold syndrome 2 614326
Tags
- locus-type-rna-long-non-coding
- deletions
- watchlist
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Amber
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- FS2
- Brachydactyly with short stature and microcephaly
- Microcephaly-oculo-digito-esophageal-duodenal syndrome
- Feingold syndrome 2, 614326
Tags
- watchlist
- deletions
- locus-type-rna-long-non-coding
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Expert Review Amber
Phenotypes
- Feingold syndrome 2, 614326
- FS2
- Brachydactyly with short stature and microcephaly
- Intellectual disability
Tags
- watchlist
- deletions
- locus-type-rna-long-non-coding
|