Limb disorders
Gene: NOTCH1

NOTCH1 (notch 1)
EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed gene from status Red to Green, there are more than three unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndrome
Created: 5 Apr 2018, 1:19 p.m.

Comment on phenotypes: Added synonym Limb, scalp and skull defects from Orphanet
Created: 5 Apr 2018, 1:03 p.m.

Comment on publications: added genereview for AOS: PMID 27077170
Created: 5 Apr 2018, 1:01 p.m.

Comment on phenotypes: added Synonym
Created: 5 Apr 2018, 12:52 p.m.

Comment on publications: Added publications to support the variants of this gene being associated to the observed phenotype.
Created: 5 Apr 2018, 12:48 p.m.

Comment on mode of inheritance: added MOI from OMIM and literature
Created: 5 Apr 2018, 12:42 p.m.

Comment on phenotypes: Added phenotype
Created: 5 Apr 2018, 12:41 p.m.

Created: 5 Apr 2018, 12:41 p.m.

Panel version: 0.32

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
London South East RGC GSTT
Viapath

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

OMIM

190198

Clinvar variants

Variants in NOTCH1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Added p

5 Apr 2018, Gel status: 3