| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dilated Cardiomyopathy v0.84 | PGM1 |
Sarah Donoghue gene: PGM1 was added gene: PGM1 was added to Dilated Cardiomyopathy. Sources: Expert Review Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750 Phenotypes for gene: PGM1 were set to Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation Penetrance for gene: PGM1 were set to Complete gene: PGM1 was marked as current diagnostic Added comment: Mixed type disorder of glycosylation - may have type I/II pattern Often glycosylation abnormalities less prominent in adulthood May also normalise with high milk intake Abnormalities of coagulation, hypothyroidism, hypogonadotrophic hypogonadism, hypoglycaemia, can have abnormal IGF1, IGFB3 This condition is treatable with galactose - may correct glycosylation abnormalities Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.75 | ILK | Zornitza Stark Marked gene: ILK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.75 | ILK | Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.75 | ILK | Zornitza Stark Publications for gene: ILK were set to 17646580; 27886618; 25163546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.71 | ILK | Zornitza Stark Publications for gene: ILK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.70 | ILK | Zornitza Stark Phenotypes for gene: ILK were changed from to Dilated cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.62 | ILK | Zornitza Stark Mode of inheritance for gene: ILK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.61 | ILK | Zornitza Stark Classified gene: ILK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.61 | ILK | Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | ILK |
Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL. PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein. PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant. PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent). 1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies, although 1 also had a TTN frameshift variant. 1 individual with HCM also reported. Red in PanelApp GEL. PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein. PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant. PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent). 1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | ILK |
Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL. PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein. PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln. PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent). 1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL. PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein. PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant. PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent). 1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | ILK |
Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL. PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein. PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I'm not sure where this information comes from. PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent). 1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL. PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein. PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln. PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent). 1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | ILK | Paul De Fazio reviewed gene: ILK: Rating: AMBER; Mode of pathogenicity: None; Publications: 17646580, 27886618, 25163546; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.0 | ILK |
Zornitza Stark gene: ILK was added gene: ILK was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ILK was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||