Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

Gene: NOTCH1

Green List (high evidence)

NOTCH1 (notch 1)
EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 12 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.

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

Set publications

Louise Daugherty (Genomics England Curator)

Publications for NOTCH1 were set to 25132448; 25963545; 27077170; 25132448

5 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Apr 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NOTCH1 were set to 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

5 Apr 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for NOTCH1 were set to 25132448; 25963545; 27077170

5 Apr 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NOTCH1 were set to 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

5 Apr 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for NOTCH1 were set to 25132448; 25963545

5 Apr 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for NOTCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Apr 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NOTCH1 were set to 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)

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to NOTCH1. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NOTCH1 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NOTCH1 was created by Ellen McDonagh