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Dilated Cardiomyopathy and conduction defects v1.55 TMPO Rebecca Whittington commented on gene: TMPO: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 MPO Rebecca Whittington commented on gene: MPO: Myeloperoxidase deficiency OMIM#254600 AR; {Alzheimer disease, susceptibility to} OMIM#104300;{Lung cancer, protection against, in smokers}
Dilated Cardiomyopathy and conduction defects v1.55 PSEN1 Rebecca Whittington commented on gene: PSEN1: ?Acne inversa, familial, 3 OMIM#613737; Alzheimer disease, type 3 OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques OMIM# 607822; Cardiomyopathy, dilated, 1U OMIM#613694; Dementia, frontotemporal OMIM#600274; Pick disease OMIM#172700
Dilated Cardiomyopathy and conduction defects v1.54 TMPO Rebecca Whittington commented on gene: TMPO: Taylor 2005 Hum Mutat 26(6), 566574, 2005.1 variant but high freq and adult onset.
Dilated Cardiomyopathy and conduction defects v1.54 MYL2 Rebecca Whittington commented on gene: MYL2: 48 DM variants listed on HGMD -including in Walsh 2017. Also Alfares (2015) Genet Med 17: 880 PubMed: 25611685. Mainly HCM. 2x DCM reported from Walsh as VUS.GOOGLE: Huang 2015 (FEBS J. 2015 June ; 282(12): 23792393. doi:10.1111/febs.13286.) identified a variant tracking with DCM in 3 family members and functional studies support pathogenicity, no freq on GnomAD and a follow up paper by Yang PNAS March 6, 2018 115 (10) E2338-E2347 undertook functional studies of this variant in mice. Weterman 2013 Brain 2013: 136; 282293- suggest a homozygous MYL2 was found tracking with disease with muscle fibre disease and DCM - also an Italian patient with similar features was compound het for variants in this gene. Summary: Not so much evidence in HGMD but google - 1 paper with a variant tracking with disease with functional studies and a follow up paper with a mouse model. then some evidence of AR muscle and DCM phenotype in two papers.
Dilated Cardiomyopathy and conduction defects v1.54 SDHA Rebecca Whittington commented on gene: SDHA: Alston (J Med Genet 2012;49:569577. doi:10.1136/jmedgenet-2012-101146) reported a case of DCM and leukodystrophy in a patient compound heterozygous for variants in this gene. Levitas (2010 European Journal of Human Genetics (2010) 18, 11601165; doi:10.1038/ejhg.2010.83; published online 16 June 2010) This is a more early onset recessive, mitochondrial gene. Homozygosity for a specific variant G555E in dilated cardiomyopathy in specific populations including in 2010 the Bedouin population - 15 cases of paediatric cardiomyopathy - variant p.Gly555Glu has only one allele on GnomAD. This variant was also described in other populations assoc with DCM including Pagnamenta Mol Genet Metab. 2006 Nov;89(3):214-21. Epub 2006 Jun 23 and Van Coster Am J Med Genet A. 2003 Jul 1;120A(1):13-8.
Dilated Cardiomyopathy and conduction defects v1.54 MPO Rebecca Whittington commented on gene: MPO: No reference to DCM on HGMD or OMIM or as far as I can see in the literature
Dilated Cardiomyopathy and conduction defects v1.53 TMPO Rebecca Whittington reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MPO Rebecca Whittington reviewed gene: MPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 TMPO Ellen McDonagh Source South West GLH was added to TMPO.
Mode of inheritance for gene TMPO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 MPO Ellen McDonagh Source South West GLH was added to MPO.
Mode of inheritance for gene MPO was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.44 TMPO James Eden reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: ; Publications: 16247757, 20186049, 27532257; Phenotypes: Dilated Cardiomyopathy, Dominant ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.43 TMPO Ellen McDonagh Source North West GLH was added to TMPO.
Added phenotypes Dilated Cardiomyopathy, Dominant for gene: TMPO
Publications for gene TMPO were changed from to 16247757; 27532257; 20186049
Dilated Cardiomyopathy and conduction defects TMPO Rebecca Foulger classified TMPO as red
Dilated Cardiomyopathy and conduction defects TMPO Rebecca Foulger commented on TMPO