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Skeletal dysplasia

Gene: NOTCH1

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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Adams-Olive in Brachydactylies (with extraskeletal manifestations) gp of SD - >3 cases.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NOTCH1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Rated as green as there are sufficient number of cases/families and Genomics England clinical team have reviewed as being relevant to this panel.
Created: 11 Sep 2018, 9:39 a.m.
There are more than three unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndrome
Sources: Expert Review
Created: 11 Sep 2018, 9:31 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

Created: 11 Sep 2018, 9:31 a.m.

Panel version: 1.146

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
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
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added 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 for gene: NOTCH1 Publications for gene NOTCH1 were changed from 25132448; 25963545; 27077170; 25132448 to 25963545; 25132448; 27077170

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to NOTCH1. Rating Changed from Green List (high evidence) to Green List (high evidence)

11 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: notch1 has been classified as Green List (High Evidence).

11 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: NOTCH1 was added gene: NOTCH1 was added to Unexplained skeletal dysplasia. Sources: Expert Review Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH1 were set to 25132448; 25963545; 27077170; 25132448 Phenotypes for gene: 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 Review for gene: NOTCH1 was set to GREEN