| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v0.49 | CRYAB | Zornitza Stark Marked gene: CRYAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.49 | CRYAB | Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.49 | CRYAB | Zornitza Stark Phenotypes for gene: CRYAB were changed from to Cardiomyopathy, dilated, 1II, MIM#615184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.48 | CRYAB | Zornitza Stark Publications for gene: CRYAB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.47 | CRYAB | Zornitza Stark Mode of inheritance for gene: CRYAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.46 | CRYAB | Zornitza Stark Classified gene: CRYAB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.46 | CRYAB | Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.43 | CRYAB |
Paul De Fazio changed review comment from: Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger). 3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM. PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort) PMID 16793013: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN. PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM. PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study) Amber in PanelApp GEL I don't think there's sufficient evidence for an association with DCM so I am marking this red.; to: Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger). 3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM. PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort) (253 hets in gnomAD) PMID 16483541: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN (18 hets in gnomad). PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM. PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study) Amber in PanelApp GEL I don't think there's sufficient evidence for an association with DCM so I am marking this red. |
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| Dilated Cardiomyopathy v0.43 | CRYAB | Paul De Fazio reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: None; Publications: 16793013, 16483541, 23590293, 29253866; Phenotypes: Cardiomyopathy, dilated, 1II MIM#615184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.0 | CRYAB |
Zornitza Stark gene: CRYAB was added gene: CRYAB was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYAB was set to Unknown |
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