GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: NOTCH1EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 11 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Adams-Olive in Brachydactylies (with extraskeletal manifestations) gp of SD - >3 cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); AOS; Limb, scalp and skull defects
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Limb, scalp and skull defects
- AOS
- Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)
- Adams-Oliver syndrome 5, 616028
- OMIM
- 190198
- Clinvar variants
- Variants in NOTCH1
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Cytopenias and congenital anaemias
- Thoracic aortic aneurysm or dissection
- Clefting
- Limb disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NOTCH1 was added gene: NOTCH1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOTCH1 were set to Limb, scalp and skull defects; AOS; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); Adams-Oliver syndrome 5, 616028