Clefting
Gene: NOTCH2
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: LiteratureCreated: 24 Jun 2023, 7:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hajdu-Cheney syndrome, OMIM:102500
Publications
Publications for gene: NOTCH2 were set to 9188663; 30329210; 37010288
Publications for gene: NOTCH2 were set to 9188663; 30329210
Gene: notch2 has been classified as Amber List (Moderate Evidence).
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