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| Congenital Heart Defect v0.310 | LZTR1 | Zornitza Stark Mode of inheritance for gene: LZTR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.309 | LZTR1 | Zornitza Stark Classified gene: LZTR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.309 | LZTR1 | Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.308 | LZTR1 | Zornitza Stark reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 10, MIM# 616564, Noonan syndrome 2, MIM# 605275; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.308 | LZTR1 |
Emanuel Birru gene: LZTR1 was added gene: LZTR1 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: LZTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LZTR1 were set to PMID: 30368668; 34184824 Phenotypes for gene: LZTR1 were set to Cardiac defects; hypertrophic cardiomyopathy; atrial septal defect; pulmonary stenosis; short stature; intellectual disabilities Penetrance for gene: LZTR1 were set to Incomplete Review for gene: LZTR1 was set to GREEN Added comment: Several variants of LZTR1 demonstrate compound heterozygosity, implying an autosomal recessive mode of inheritance. Patients with LZTR1 variants had cardiac defects, and these LZTR1 variants are linked to a spectrum of conditions, including Noonan syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome, and other related disorders. Many patients carrying LZTR1 variants are clinically suspected to have Noonan syndrome due to the presence of shared clinical features associated with NS. These features encompass relative macrocephaly, NS-associated facial characteristics, heart defects, intellectual disability, and short stature. Sources: Literature |
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