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| Congenital Heart Defect v0.313 | CHD4 | Zornitza Stark Marked gene: CHD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.313 | CHD4 | Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.313 | CHD4 | Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome (MIM#617159) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.312 | CHD4 | Zornitza Stark Publications for gene: CHD4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.311 | CHD4 | Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.310 | CHD4 |
Polly McIntosh changed review comment from: OMIM 617159 Sifrim-Hitz-Weiss Syndrome (Also called CHD4 Neurodevelopmental Disorder) 31 de novo cases with Sifrim-Hitz-Weiss Syndrome PMID 31388190: 72% of patients assessed (21/29) had structural heart abnormalities inc. septal defects, tetrology of Fallot and truncus arteriosus. Functional studies on engineered cells with CHD4 variants showed reduced ATPase activity and reduced chromatin remodeling (PMID 31388190). Mouse studies on another CHD4 variant showed ventricular hypertrabeculation in CHD4 variant mice (PMID 37254794); to: OMIM 617159 Sifrim-Hitz-Weiss Syndrome (Also called CHD4 Neurodevelopmental Disorder) 31 de novo cases with Sifrim-Hitz-Weiss Syndrome PMID 31388190: 72% of patients assessed (21/29) had structural heart abnormalities inc. septal defects, tetrology of Fallot and truncus arteriosus. Functional studies on engineered cells with CHD4 variants showed reduced ATPase activity and reduced chromatin remodeling (PMID 31388190). Mouse studies on another CHD4 variant showed ventricular hypertrabeculation in CHD4 variant mice (PMID 37254794) |
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| Congenital Heart Defect v0.310 | CHD4 | Polly McIntosh reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31388190, 31474762, 27479907, 27616479, 24348274, 37254794; Phenotypes: Developmental delay, intellectual disability, ophthalmological abnormalities, congenital heart defects, hypotonia, hearing impairment, cryptorchidism, macrocephaly, skeletal abnormalities, hypogonadism, short stature, hydrocephalus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.0 | CHD4 |
Zornitza Stark gene: CHD4 was added gene: CHD4 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD4 was set to Unknown |
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