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  3. NOTCH2
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Clefting

Gene: NOTCH2

Amber List (moderate evidence)
NOTCH2 (notch 2)
EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 14 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: Although there are three cases reported with cleft lip/ palate or cleft of uvula, these are reported only in a minor proportion of patients and hence this gene can only be rated amber.
Created: 24 Jun 2023, 7:42 a.m. | Last Modified: 24 Jun 2023, 7:42 a.m.
Panel Version: 4.66
PMID:9188663 - An 8.5-year-old boy with NOTCH2 variant and Hajdu-Cheney syndrome was reported with cleft lip and palate.

PMID:30329210 - A 32-year-old male patient with a de novo truncating variant in NOTCH2 and presenting with Hajdu-Cheney syndrome had high arched palate and cleft of uvula.

DECIPHER database - One of seven patients with heterozygous sequence variants in NOTCH2 was identified with submucous cleft hard palate.
Sources: Literature
Created: 24 Jun 2023, 7:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hajdu-Cheney syndrome, OMIM:102500

Publications

Created: 24 Jun 2023, 7:40 a.m.

Panel version: 4.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hajdu-Cheney syndrome, OMIM:102500
OMIM
600275
Clinvar variants
Variants in NOTCH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jun 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: NOTCH2 were set to 9188663; 30329210; 37010288

24 Jun 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: NOTCH2 were set to 9188663; 30329210

24 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: notch2 has been classified as Amber List (Moderate Evidence).

24 Jun 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NOTCH2 was added gene: NOTCH2 was added to Clefting. Sources: Literature Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 9188663; 30329210 Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome, OMIM:102500 Review for gene: NOTCH2 was set to AMBER