Dilated and arrhythmogenic cardiomyopathy
Gene: MYZAPEnsemblGeneIds (GRCh38): ENSG00000263155
EnsemblGeneIds (GRCh37): ENSG00000263155
OMIM: 614071, Gene2Phenotype
MYZAP is in 2 panels
4 reviews
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: There is now an association with Cardiomyopathy in OMIM so added this as a phenotype term.Created: 6 Dec 2024, 9:43 a.m. | Last Modified: 6 Dec 2024, 9:43 a.m.
Panel Version: 2.36
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Reviewers suggest it is more suitable for R135 Paediatric or syndromic cardiomyopathy.Created: 6 Dec 2024, 9:37 a.m. | Last Modified: 6 Dec 2024, 9:37 a.m.
Panel Version: 2.35
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to the panel by Aleš Maver. MYZAP is not yet associated with any phenotype in OMIM or Gene2Phenoype. At least three unrelated families have been reported with biallelic LOF variants in MYZAP and a phenotype of DCM (PMIDs: 34899865; 35840178; 38436102). Studies in zebrafish and mice demonstrate the link between MYZAP and cardiomyopathy (PMIDs: 20093627; 24698889). Overall, the evidence is sufficient to promote this gene to Green at the next GMS panel update.Created: 17 Apr 2024, 9:47 a.m. | Last Modified: 17 Apr 2024, 9:47 a.m.
Panel Version: 2.21
Ivone Leong (Genomics England Curator)
Comment on mode of pathogenicity: Changed from "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments" to "Other". LOF does cause phenotype.Created: 16 Aug 2022, 12:41 p.m. | Last Modified: 16 Aug 2022, 12:41 p.m.
Panel Version: 1.30
Aleš Maver (Clinical Institute of Medical Genetics)
Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in three families altogether with recessive dilated cardiomyopathy (DCM) (PMID:34899865 and PMID:35840178). Altogether, 8 patients with DCM and biallelic LOF variants are reported in the three published families.
Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627).
Functional studies of the variant reported in PMID:35840178 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes.
Sources: OtherCreated: 11 Aug 2022, 8:32 a.m. | Last Modified: 11 Aug 2022, 8:39 a.m.
Panel Version: 1.28
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy
Publications
- 34899865
- doi:10.1101/mcs.a006221
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Dilated cardiomyopathy, MONDO:0005021
- Cardiomyopathy, dilated, 2K, OMIM:620894
- OMIM
- 614071
- Clinvar variants
- Variants in MYZAP
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: MYZAP.
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: MYZAP were changed from Dilated cardiomyopathy, MONDO:0005021 to Dilated cardiomyopathy, MONDO:0005021; Cardiomyopathy, dilated, 2K, OMIM:620894
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: MYZAP.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MYZAP were set to 34899865; 20093627; 35840178
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: myzap has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: myzap has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MYZAP were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021
Set mode of pathogenicity
Ivone Leong (Genomics England Curator)Mode of pathogenicity for gene: MYZAP was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MYZAP were set to 34899865; doi:10.1101/mcs.a006221
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Aleš Maver (Clinical Institute of Medical Genetics)gene: MYZAP was added gene: MYZAP was added to Dilated cardiomyopathy - adult and teen. Sources: Other Mode of inheritance for gene: MYZAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYZAP were set to 34899865; doi:10.1101/mcs.a006221 Phenotypes for gene: MYZAP were set to Dilated cardiomyopathy Penetrance for gene: MYZAP were set to unknown Mode of pathogenicity for gene: MYZAP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MYZAP was set to RED