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24 Feb 2026	Dilated and arrhythmogenic cardiomyopathy v3.11	RPL3L	Matthew Edwards reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 8921388, 32870709, 35323613, 32514796, 36291431, 37308880; Phenotypes: Dilated Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Jan 2026	Dilated and arrhythmogenic cardiomyopathy v3.10	GATA6	Ida Ertmanska commented on gene: GATA6
13 Jan 2026	Dilated and arrhythmogenic cardiomyopathy v3.10	SGCD	Ida Ertmanska Tag disputed was removed from gene: SGCD.
13 Jan 2026	Dilated and arrhythmogenic cardiomyopathy v3.10	SGCD	Ida Ertmanska commented on gene: SGCD
13 Jan 2026	Dilated and arrhythmogenic cardiomyopathy v3.10	SGCD	Ida Ertmanska Tag disputed tag was added to gene: SGCD.
10 Dec 2025	Dilated and arrhythmogenic cardiomyopathy v3.10	MYLK3	Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: MYLK3. Tag Q2_25_expert_review was removed from gene: MYLK3. Tag Q2_25_ NHS_review was removed from gene: MYLK3.
10 Dec 2025	Dilated and arrhythmogenic cardiomyopathy v3.10	MYLK3	Achchuthan Shanmugasundram commented on gene: MYLK3
09 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.9	RPL3L	Arina Puzriakova Publications for gene: RPL3L were set to 32514796; 32870709
09 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.8	RPL3L	Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RPL3L. Tag Q3_25_expert_review tag was added to gene: RPL3L.
09 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.8	RPL3L	Arina Puzriakova Classified gene: RPL3L as Amber List (moderate evidence)
09 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.8	RPL3L	Arina Puzriakova Added comment: Comment on list classification: There are now at least 14 individuals from 11 families with severe early-onset dilated cardiomyopathy. Almost all attributed to compound heterozygous missense variants (also 3 frameshift and 1 splice-site) but the underlying mechanism remains poorly understood. Notably, RPL3L knockout in mice did not result in any severe heart defects. (PMID: 32514796; 32870709; 36291431; 35323613; 37308880; 39803500; 40820268) The number of cases reported supports inclusion on this panel as Green, but given that mouse models are conflicting and this addition was rejected in a previous GMS panel release, tagging for additional GMS expert review to determine the appropriate rating.
09 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.8	RPL3L	Arina Puzriakova Gene: rpl3l has been classified as Amber List (Moderate Evidence).
09 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.7	RPL3L	Arina Puzriakova Added comment: Comment on phenotypes: This gene now has a phenotype listed in OMIM: Cardiomyopathy, dilated, 2D, OMIM:619371 (accessed on 09-10-2025)
09 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.7	RPL3L	Arina Puzriakova Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021 to Cardiomyopathy, dilated, 2D, OMIM:619371
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.6	DST	Eleanor Williams Deleted their comment
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.6	DST	Eleanor Williams edited their review of gene: DST: Changed rating: RED
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.6	DST	Eleanor Williams Tag curated_removed tag was added to gene: DST.
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.6	DST	Eleanor Williams Classified gene: DST as No list
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.6	DST	Eleanor Williams Added comment: Comment on list classification: Removing from this panel. Since the presentation is syndromic it is better suited to the Paediatric or syndromic cardiomyopathy panel (panel ID 749)
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.6	DST	Eleanor Williams Gene: dst has been removed from the panel.
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.5	DST	Eleanor Williams Classified gene: DST as Red List (low evidence)
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.5	DST	Eleanor Williams Gene: dst has been classified as Red List (Low Evidence).
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.4	DST	Eleanor Williams changed review comment from: Comment on list classification: Promoting to amber with a recommendation for green rating following GMS approval.; to: Comment on list classification: Promoting to amber but checking with the clinical team whether this is the right panel for this gene.
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.4	DST	Eleanor Williams Tag Q3_25_promote_green was removed from gene: DST.
02 Oct 2025	Dilated and arrhythmogenic cardiomyopathy v3.4	DST	Eleanor Williams changed review comment from: Associated with Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency (615425) and Neuropathy, hereditary sensory and autonomic, type VI (614653) in OMIM caused by a loss of DST-e and DST-a respectively. PMID: 40497796 (2025) - biallelic variants in the DST impacting the DST-b isoform were identified in in 19 individuals from 14 unrelated families of different ethnicities by exome or genome sequencing or Sanger sequencing of affected siblings. Other likely pathogenic variants were excluded through sequencing analysis in line with ACMG classification guidelines. 8 variants were identified in these 19 patients with variants that only affect the DST-b isoform; 4 nonsense and 4 frameshift. All variants were absent or rare in gnomad. In 13 families the variant was homozygous and in 1 it was compound heterozygous. Prenatal abnormalities were documented in 7/15 cases (reduced fetal movements and joint contractures). Of the 16 individuals assessed post birth, all displayed contractures at birth, 10/14 (from 9 families) displayed cardiomyopathy (9 with dilated cardiomyopathy), 14/14 (from 12 families) motor delay and 15/15 (from 12 families) muscular hypotonia. RNA sequencing from control individuals showed that transcripts encoding DST-b isoform are expressed in skeletal muscle, heart tissue, and cultured fibroblasts. RNA sequencing analysis of patient fibroblasts from 3 affected individuals showed reduced DST RNA levels, but only in one case was this statistically signficant. However, proteomic studies with fibroblasts from 2 individuals showed a significant reduction of Dystonin, and a complete loss of the DST-b isoform. The author conclude this indicates that the DST-b transcripts escape NMD but encode a protein that is instable or rapidly degraded. In addition, biallelic variants affecting both DST-a and DST-b isoforms were identified in 4 individuals from two families by exome sequencing. All presented with severe arthrogryposis and died intrauterine or shortly after birth. PMID: 35942699 (2022) In a Dst-b-specific mutant mouse model with a nonsense mutation, the mice exhibit late-onset protein aggregate myopathy and cardiomyopathy without neuropathy. Sources: Literature; to: Associated with Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency (615425) and Neuropathy, hereditary sensory and autonomic, type VI (614653) in OMIM caused by a loss of DST-e and DST-a respectively. However, variants in the DTS-b isoform appear to result in a different phenotype. PMID: 40497796 (2025) - biallelic variants in the DST impacting the DST-b isoform were identified in in 19 individuals from 14 unrelated families of different ethnicities by exome or genome sequencing or Sanger sequencing of affected siblings. Other likely pathogenic variants were excluded through sequencing analysis in line with ACMG classification guidelines. 8 variants were identified in these 19 patients with variants that only affect the DST-b isoform; 4 nonsense and 4 frameshift. All variants were absent or rare in gnomad. In 13 families the variant was homozygous and in 1 it was compound heterozygous. Prenatal abnormalities were documented in 7/15 cases (reduced fetal movements and joint contractures). Of the 16 individuals assessed post birth, all displayed contractures at birth, 10/14 (from 9 families) displayed cardiomyopathy (9 with dilated cardiomyopathy), 14/14 (from 12 families) motor delay and 15/15 (from 12 families) muscular hypotonia. RNA sequencing from control individuals showed that transcripts encoding DST-b isoform are expressed in skeletal muscle, heart tissue, and cultured fibroblasts. RNA sequencing analysis of patient fibroblasts from 3 affected individuals showed reduced DST RNA levels, but only in one case was this statistically signficant. However, proteomic studies with fibroblasts from 2 individuals showed a significant reduction of Dystonin, and a complete loss of the DST-b isoform. The author conclude this indicates that the DST-b transcripts escape NMD but encode a protein that is instable or rapidly degraded. In addition, biallelic variants affecting both DST-a and DST-b isoforms were identified in 4 individuals from two families by exome sequencing. All presented with severe arthrogryposis and died intrauterine or shortly after birth. PMID: 35942699 (2022) In a Dst-b-specific mutant mouse model with a nonsense mutation, the mice exhibit late-onset protein aggregate myopathy and cardiomyopathy without neuropathy. Sources: Literature
30 Sep 2025	Dilated and arrhythmogenic cardiomyopathy v3.4	DST	Eleanor Williams Classified gene: DST as Amber List (moderate evidence)
30 Sep 2025	Dilated and arrhythmogenic cardiomyopathy v3.4	DST	Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation for green rating following GMS approval.
30 Sep 2025	Dilated and arrhythmogenic cardiomyopathy v3.4	DST	Eleanor Williams Gene: dst has been classified as Amber List (Moderate Evidence).
30 Sep 2025	Dilated and arrhythmogenic cardiomyopathy v3.3	DST	Eleanor Williams gene: DST was added gene: DST was added to Dilated and arrhythmogenic cardiomyopathy. Sources: Literature Q3_25_promote_green tags were added to gene: DST. Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DST were set to 40497796; 35942699 Phenotypes for gene: DST were set to arthrogryposis, MONDO:0859248; cardiomyopathy, MONDO:0004994; congenital myopathy, MONDO:0019952 Review for gene: DST was set to GREEN Added comment: Associated with Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency (615425) and Neuropathy, hereditary sensory and autonomic, type VI (614653) in OMIM caused by a loss of DST-e and DST-a respectively. PMID: 40497796 (2025) - biallelic variants in the DST impacting the DST-b isoform were identified in in 19 individuals from 14 unrelated families of different ethnicities by exome or genome sequencing or Sanger sequencing of affected siblings. Other likely pathogenic variants were excluded through sequencing analysis in line with ACMG classification guidelines. 8 variants were identified in these 19 patients with variants that only affect the DST-b isoform; 4 nonsense and 4 frameshift. All variants were absent or rare in gnomad. In 13 families the variant was homozygous and in 1 it was compound heterozygous. Prenatal abnormalities were documented in 7/15 cases (reduced fetal movements and joint contractures). Of the 16 individuals assessed post birth, all displayed contractures at birth, 10/14 (from 9 families) displayed cardiomyopathy (9 with dilated cardiomyopathy), 14/14 (from 12 families) motor delay and 15/15 (from 12 families) muscular hypotonia. RNA sequencing from control individuals showed that transcripts encoding DST-b isoform are expressed in skeletal muscle, heart tissue, and cultured fibroblasts. RNA sequencing analysis of patient fibroblasts from 3 affected individuals showed reduced DST RNA levels, but only in one case was this statistically signficant. However, proteomic studies with fibroblasts from 2 individuals showed a significant reduction of Dystonin, and a complete loss of the DST-b isoform. The author conclude this indicates that the DST-b transcripts escape NMD but encode a protein that is instable or rapidly degraded. In addition, biallelic variants affecting both DST-a and DST-b isoforms were identified in 4 individuals from two families by exome sequencing. All presented with severe arthrogryposis and died intrauterine or shortly after birth. PMID: 35942699 (2022) In a Dst-b-specific mutant mouse model with a nonsense mutation, the mice exhibit late-onset protein aggregate myopathy and cardiomyopathy without neuropathy. Sources: Literature
25 Sep 2025	Dilated and arrhythmogenic cardiomyopathy v3.2	PRDM16	Jesse Hayesmoore reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23768516, PMID: 24454898, PMID: 37395136, PMID: 33500567, PMID: 29367541, PMID: 35893073, PMID: 29447731, PMID: 30847666, PMID: 33082984, PMID: 32183154, PMID: 34540771, PMID: 34350506, PMID: 34935411, PMID: 38113297, PMID: 31965688, PMID: 40935858, PMID: 21343612, PMID: 32083975, PMID: 33086060, PMID: 34915728; Phenotypes: LVNC, DCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
01 Aug 2025	Dilated and arrhythmogenic cardiomyopathy v3.2	EYA4	Arina Puzriakova Phenotypes for gene: EYA4 were changed from ?Cardiomyopathy, dilated, 1J (605362); Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10 (601316) to ?Cardiomyopathy, dilated, 1J, OMIM:605362
14 Jul 2025	Dilated and arrhythmogenic cardiomyopathy v3.1	MYLK3	Matthew Edwards Deleted their comment
14 Jul 2025	Dilated and arrhythmogenic cardiomyopathy v3.1	MYLK3	Matthew Edwards edited their review of gene: MYLK3: Added comment: Several mouse models (and a zebrafish), one of which is heterozygous KO which recapitulates DCM (31244672). Good expression/protein interaction evidence 17885681, 18202317) Rare cases in literature - PMID: 29235529 has two families: Family A - two early onset sibs and their affected mother (later onset) had heterozygous MYLK3 LOF variant - sibs also had a FLNC LOF variant (from unaffected father), likely explaining early onset. Family B two later onset sibs with heterozygous MYLK3 LOF variant. functional studies of both showed reduced protein expression. PMID: 30690923: has proband with heterozygous LOF variant. 3 consanguineous families with hom LOf (2 families) and hom missense (1 family). We've seen 10 LOF variants in DCM patients (with 3 detected in control set of non-DCM cases ~5000 samples - one possibly too young for phenotype, 2 with variant in only one of two isforms expressed in heart), but currently classify as VUS due to limited haploinsufficiency evidence. (Clin~Gen curation still pending); Changed rating: GREEN
30 Jun 2025	Dilated and arrhythmogenic cardiomyopathy v3.1	MYLK3	Arina Puzriakova commented on gene: MYLK3: Tagged for GMS review to determine whether this gene should remain Amber or be promoted to Green. As stated by Matthew Edwards, the evidence is borderline - several unrelated cases and supportive mouse model but MOI varies, one family also had variants in another DCM gene and there are unaffected carriers. MYLK3 is green on the R135 Paediatric or syndromic cardiomyopathy panel based on the same evidence.
30 Jun 2025	Dilated and arrhythmogenic cardiomyopathy v3.1	MYLK3	Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: MYLK3. Tag Q2_25_expert_review tag was added to gene: MYLK3. Tag Q2_25_ NHS_review tag was added to gene: MYLK3.
06 Jun 2025	Dilated and arrhythmogenic cardiomyopathy v3.1	MYLK3	Matthew Edwards reviewed gene: MYLK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17885681, 31244672, 37128901, 32213617, 29235529, 30690923; Phenotypes: Dilated Cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Apr 2025	Dilated and arrhythmogenic cardiomyopathy v3.1		Sarah Leigh Panel version 3.0 has been signed off on 2025-04-30
30 Apr 2025	Dilated and arrhythmogenic cardiomyopathy v3.0		Sarah Leigh promoted panel to version 3.0
10 Apr 2025	Dilated and arrhythmogenic cardiomyopathy v2.37	TAX1BP3	Achchuthan Shanmugasundram Classified gene: TAX1BP3 as Amber List (moderate evidence)
10 Apr 2025	Dilated and arrhythmogenic cardiomyopathy v2.37	TAX1BP3	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated amber with current evidence as there is only one family and functional work in support of the disease association.
10 Apr 2025	Dilated and arrhythmogenic cardiomyopathy v2.37	TAX1BP3	Achchuthan Shanmugasundram Gene: tax1bp3 has been classified as Amber List (Moderate Evidence).
03 Apr 2025	Dilated and arrhythmogenic cardiomyopathy v2.36	TAX1BP3	Achchuthan Shanmugasundram Deleted their comment
03 Apr 2025	Dilated and arrhythmogenic cardiomyopathy v2.36	TAX1BP3	Achchuthan Shanmugasundram commented on gene: TAX1BP3: PMID:39963794 reported a kindred with multiple members affected by arrhythmogenic cardiomyopathy (ACM) cosegregating with biallelic TAX1BP3 variants (~28 kb deletion encompassing the entire gene and missense variant p.(Met78Thr)). Three affected siblings from the family had the bialleic variants which were absent in an unaffected sister. Carrier parents were normal. Experimental work on patient-derived induced pluripotent stem cell cardiac myocytes and a knockout mouse model showed that loss of TAX1BP3 causes calcium dysregulation in cardiomyocytes, which is a known mechanism for arrhythmia. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
03 Apr 2025	Dilated and arrhythmogenic cardiomyopathy v2.36	TAX1BP3	Achchuthan Shanmugasundram reviewed gene: TAX1BP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 39963794; Phenotypes: Arrhythmogenic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Feb 2025	Dilated and arrhythmogenic cardiomyopathy v2.36	TAX1BP3	Riyaad Aungraheeta gene: TAX1BP3 was added gene: TAX1BP3 was added to Dilated and arrhythmogenic cardiomyopathy. Sources: Literature Mode of inheritance for gene: TAX1BP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAX1BP3 were set to 39963794 Phenotypes for gene: TAX1BP3 were set to Arrhythmogenic cardiomyopathy Review for gene: TAX1BP3 was set to AMBER Added comment: Sources: Literature
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.36	MYZAP	Eleanor Williams Tag Q2_24_promote_green was removed from gene: MYZAP.
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.36	TBX20	Eleanor Williams Tag Q2_24_promote_green was removed from gene: TBX20.
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.36	TAB2	Eleanor Williams changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Reviewers note isolated DCM is not the presenting feature, it causes a syndromic phenotpye, and the cardiovascular manifestation is mulitple coronary heart disease and is therefore not suitable for R132 .; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Reviewers note isolated DCM is not the presenting feature, it causes a syndromic phenotpye, and the cardiovascular manifestation is mulitple coronary heart disease and is therefore not suitable for R132 (where it is already green).
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.36	TAB2	Eleanor Williams Tag Q3_23_promote_green was removed from gene: TAB2.
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.36	RRAGC	Eleanor Williams Tag Q2_23_promote_green was removed from gene: RRAGC.
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.36	PRDM16	Eleanor Williams Tag Q2_24_promote_green was removed from gene: PRDM16. Tag Q2_24_NHS_review was removed from gene: PRDM16.
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.36	PPA2	Eleanor Williams Tag Q3_23_promote_green was removed from gene: PPA2. Tag Q3_23_NHS_review was removed from gene: PPA2.
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.36	MYZAP	Eleanor Williams Added comment: Comment on phenotypes: There is now an association with Cardiomyopathy in OMIM so added this as a phenotype term.
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.36	MYZAP	Eleanor Williams Phenotypes for gene: MYZAP were changed from Dilated cardiomyopathy, MONDO:0005021 to Dilated cardiomyopathy, MONDO:0005021; Cardiomyopathy, dilated, 2K, OMIM:620894
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.35	FKRP	Eleanor Williams Tag Q4_23_promote_green was removed from gene: FKRP. Tag Q4_23_NHS_review was removed from gene: FKRP.
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.35	TBX20	Eleanor Williams reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.35	TAB2	Eleanor Williams commented on gene: TAB2
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.35	RRAGC	Eleanor Williams commented on gene: RRAGC
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.35	PRDM16	Eleanor Williams reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.35	PPA2	Eleanor Williams reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.35	MYZAP	Eleanor Williams commented on gene: MYZAP
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.35	FKRP	Eleanor Williams commented on gene: FKRP
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.34	TBX20	Eleanor Williams Source Expert Review Green was added to TBX20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.34	PRDM16	Eleanor Williams Source Expert Review Green was added to PRDM16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
06 Dec 2024	Dilated and arrhythmogenic cardiomyopathy v2.34	PPA2	Eleanor Williams Source NHS GMS was added to PPA2. Source Expert Review Green was added to PPA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
30 Oct 2024	Dilated and arrhythmogenic cardiomyopathy v2.33		Sarah Leigh Panel version 2.32 has been signed off on 2024-10-30
07 Aug 2024	Dilated and arrhythmogenic cardiomyopathy v2.32		Achchuthan Shanmugasundram Panel version 2.31 has been signed off on 2024-08-07
04 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.31	TBX20	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: TBX20.
04 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.31	TBX20	Sarah Leigh commented on gene: TBX20: Three TBX20 variants have been associated with Atrial septal defect 4, in OMIM and Gen2Phen (PMID:17668378; 19762328) and seven TBX20 variants have been associated with Left ventricular noncompaction (LVNC)(PMID:37657916; 29089047; 35282022).
04 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.31	TBX20	Sarah Leigh reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
04 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.31	TBX20	Sarah Leigh Publications for gene: TBX20 were set to 17668378; 19762328; 37657916
04 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.30	TBX20	Sarah Leigh Phenotypes for gene: TBX20 were changed from Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654 to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654; Dilated cardiomyopathy, MONDO:0005021
04 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.29	PRDM16	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PRDM16. Tag Q2_24_NHS_review tag was added to gene: PRDM16.
04 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.29	PRDM16	Sarah Leigh reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
04 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.29	PRDM16	Sarah Leigh Phenotypes for gene: PRDM16 were changed from to Cardiomyopathy, dilated, 1LL, OMIM:615373; Left ventricular noncompaction 8, OMIM:615373; left ventricular noncompaction 8, MONDO:0014152
04 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.28	PRDM16	Sarah Leigh Publications for gene: PRDM16 were set to
03 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.27	TBX20	Sarah Leigh Publications for gene: TBX20 were set to
03 Jun 2024	Dilated and arrhythmogenic cardiomyopathy v2.26	TBX20	Sarah Leigh Phenotypes for gene: TBX20 were changed from to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654
15 May 2024	Dilated and arrhythmogenic cardiomyopathy v2.25	PRDM16	Mike Spiller reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 May 2024	Dilated and arrhythmogenic cardiomyopathy v2.25		Ivone Leong Panel version 2.23 has been signed off on 2024-05-01
01 May 2024	Dilated and arrhythmogenic cardiomyopathy v2.24		Ivone Leong Panel version 2.23 has been signed off on 2024-02-01
17 Apr 2024	Dilated and arrhythmogenic cardiomyopathy v2.22	MYZAP	Arina Puzriakova Tag Q2_24_promote_green tag was added to gene: MYZAP.
17 Apr 2024	Dilated and arrhythmogenic cardiomyopathy v2.22	MYZAP	Arina Puzriakova Deleted their comment
17 Apr 2024	Dilated and arrhythmogenic cardiomyopathy v2.22	MYZAP	Arina Puzriakova Publications for gene: MYZAP were set to 34899865; 20093627; 35840178
17 Apr 2024	Dilated and arrhythmogenic cardiomyopathy v2.21	MYZAP	Arina Puzriakova Classified gene: MYZAP as Amber List (moderate evidence)
17 Apr 2024	Dilated and arrhythmogenic cardiomyopathy v2.21	MYZAP	Arina Puzriakova Added comment: 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.
17 Apr 2024	Dilated and arrhythmogenic cardiomyopathy v2.21	MYZAP	Arina Puzriakova Gene: myzap has been classified as Amber List (Moderate Evidence).
17 Apr 2024	Dilated and arrhythmogenic cardiomyopathy v2.21	MYZAP	Arina Puzriakova Classified gene: MYZAP as Amber List (moderate evidence)
17 Apr 2024	Dilated and arrhythmogenic cardiomyopathy v2.21	MYZAP	Arina Puzriakova Added comment: 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.
17 Apr 2024	Dilated and arrhythmogenic cardiomyopathy v2.21	MYZAP	Arina Puzriakova Gene: myzap has been classified as Amber List (Moderate Evidence).
08 Dec 2023	Dilated and arrhythmogenic cardiomyopathy v2.20	FKRP	Achchuthan Shanmugasundram Classified gene: FKRP as Amber List (moderate evidence)
08 Dec 2023	Dilated and arrhythmogenic cardiomyopathy v2.20	FKRP	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be considered for promotion to green rating in this panel in the next GMS review.
08 Dec 2023	Dilated and arrhythmogenic cardiomyopathy v2.20	FKRP	Achchuthan Shanmugasundram Gene: fkrp has been classified as Amber List (Moderate Evidence).
08 Dec 2023	Dilated and arrhythmogenic cardiomyopathy v2.19	FKRP	Achchuthan Shanmugasundram Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155
08 Dec 2023	Dilated and arrhythmogenic cardiomyopathy v2.18	FKRP	Achchuthan Shanmugasundram Publications for gene: FKRP were set to
08 Dec 2023	Dilated and arrhythmogenic cardiomyopathy v2.17	FKRP	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: FKRP. Tag Q4_23_NHS_review tag was added to gene: FKRP.
08 Dec 2023	Dilated and arrhythmogenic cardiomyopathy v2.17	FKRP	Achchuthan Shanmugasundram changed review comment from: PMID:32914449 reviewed 56 patients with limb-girdle muscular dystrophy and biallelic FKRP variants, of which 45% of patients had dilated cardiomyopathy as part of the phenotype with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other variants. Dilated cardiomyopathy was also reported as part of the LGMD phenotype in both OMIM (MIM #607155) and Gene2Phenotype.; to: As reviewed by Oliver Watkinson, the limb-girdle muscular dystrophy phenotype caused by biallelic FKRP variants includes dilated cardiomyopathy as part of the phenotype. PMID:32914449 reviewed 56 patients with limb-girdle muscular dystrophy and biallelic FKRP variants, of which 45% of patients had dilated cardiomyopathy as part of the phenotype with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other variants. There were also a number of cases reported with dilated cardiomyopathy being the presenting condition and preceding overt skeletal muscle disease as noted by Oliver Watkinson including the recent case that he has seen in hospital. Dilated cardiomyopathy was also reported as part of the LGMD phenotype in both OMIM (MIM #607155) and Gene2Phenotype.
08 Dec 2023	Dilated and arrhythmogenic cardiomyopathy v2.17	FKRP	Achchuthan Shanmugasundram reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32914449; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Nov 2023	Dilated and arrhythmogenic cardiomyopathy v2.17	FKRP	Oliver Watkinson reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32914449, 19705481, 18060779, 15833432; Phenotypes: Dilated cardiomyopathy, Limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
08 Aug 2023	Dilated and arrhythmogenic cardiomyopathy v2.14	PPA2	Achchuthan Shanmugasundram Classified gene: PPA2 as Amber List (moderate evidence)
08 Aug 2023	Dilated and arrhythmogenic cardiomyopathy v2.14	PPA2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Matthew Edwards, there is sufficient evidence for this gene to be promoted to green rating at the next GMS review.
08 Aug 2023	Dilated and arrhythmogenic cardiomyopathy v2.14	PPA2	Achchuthan Shanmugasundram Gene: ppa2 has been classified as Amber List (Moderate Evidence).
08 Aug 2023	Dilated and arrhythmogenic cardiomyopathy v2.13	PPA2	Achchuthan Shanmugasundram Phenotypes for gene: PPA2 were changed from Sudden cardiac failure, infantile; Sudden cardiac failure, alcohol-induced to Sudden cardiac failure, infantile, OMIM:617222; ?Sudden cardiac failure, alcohol-induced, OMIM:617223
08 Aug 2023	Dilated and arrhythmogenic cardiomyopathy v2.12	PPA2	Achchuthan Shanmugasundram Publications for gene: PPA2 were set to PMID: 34400813
08 Aug 2023	Dilated and arrhythmogenic cardiomyopathy v2.11	PPA2	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PPA2. Tag Q3_23_NHS_review tag was added to gene: PPA2.
08 Aug 2023	Dilated and arrhythmogenic cardiomyopathy v2.11	PPA2	Achchuthan Shanmugasundram reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34400813; Phenotypes: Sudden cardiac failure, infantile, OMIM:617222, ?Sudden cardiac failure, alcohol-induced, OMIM:617223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Jul 2023	Dilated and arrhythmogenic cardiomyopathy v2.11	TAB2	Arina Puzriakova Entity copied from Paediatric or syndromic cardiomyopathy v3.15
17 Jul 2023	Dilated and arrhythmogenic cardiomyopathy v2.11	TAB2	Arina Puzriakova gene: TAB2 was added gene: TAB2 was added to Dilated and arrhythmogenic cardiomyopathy. Sources: Expert Review Amber,NHS GMS,London South GLH Q3_23_promote_green tags were added to gene: TAB2. Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TAB2 were set to 28464518; 29700987; 32183715; 34456334; 34990405; 34741306; 36000780; 37153890 Phenotypes for gene: TAB2 were set to Congenital heart defects, nonsyndromic, 2, OMIM:614980
09 Jun 2023	Dilated and arrhythmogenic cardiomyopathy v2.10	PPA2	Matthew Edwards gene: PPA2 was added gene: PPA2 was added to Dilated and arrhythmogenic cardiomyopathy. Sources: Expert Review Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to PMID: 34400813 Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile; Sudden cardiac failure, alcohol-induced Penetrance for gene: PPA2 were set to unknown Review for gene: PPA2 was set to GREEN gene: PPA2 was marked as current diagnostic Added comment: Now a well established gene causing infantile sudden death, but can also manifest at a later age as alcohol-induced sudden death. Our lab and others have found several bi-allelic pathogenic variants in such SCD cases (see above ref). Is currently on syndromic/paediatric cardiomyopathy panel (R135) and mitochindrial panels, but wholly appropriate for this panel as well Sources: Expert Review
10 May 2023	Dilated and arrhythmogenic cardiomyopathy v2.10	RRAGC	Arina Puzriakova Tag Q2_23_NHS_review was removed from gene: RRAGC.
10 May 2023	Dilated and arrhythmogenic cardiomyopathy v2.10	RRAGC	Arina Puzriakova Entity copied from Paediatric or syndromic cardiomyopathy v3.12
10 May 2023	Dilated and arrhythmogenic cardiomyopathy v2.10	RRAGC	Arina Puzriakova gene: RRAGC was added gene: RRAGC was added to Dilated and arrhythmogenic cardiomyopathy. Sources: NHS GMS,Literature,Expert Review Amber Q2_23_promote_green, Q2_23_NHS_review tags were added to gene: RRAGC. Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAGC were set to 27234373; 37057673 Phenotypes for gene: RRAGC were set to Dilated cardiomyopathy, hepatopathy and brain abnormalities Penetrance for gene: RRAGC were set to unknown
22 Mar 2023	Dilated and arrhythmogenic cardiomyopathy v2.9		Arina Puzriakova Panel version 2.8 has been signed off on 2023-03-22
22 Mar 2023	Dilated and arrhythmogenic cardiomyopathy v2.8		Arina Puzriakova Panel name changed from Dilated cardiomyopathy - adult and teen to Dilated and arrhythmogenic cardiomyopathy List of related panels changed from R132 to Dilated cardiomyopathy - adult and teen; R132
01 Mar 2023	Dilated and arrhythmogenic cardiomyopathy v2.7	RYR2	Arina Puzriakova Publications for gene: RYR2 were set to 20301310; 19926015; 17875969
22 Feb 2023	Dilated and arrhythmogenic cardiomyopathy v2.6	LMNA	Achchuthan Shanmugasundram Publications for gene: LMNA were set to 20186049; 27532257
22 Feb 2023	Dilated and arrhythmogenic cardiomyopathy v2.5	DSP	Achchuthan Shanmugasundram Publications for gene: DSP were set to 23500315; 27532257
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	TBX5	Arina Puzriakova Tag Q2_21_rating was removed from gene: TBX5.
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	SPEG	Arina Puzriakova Tag Q2_21_rating was removed from gene: SPEG.
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	RPL3L	Arina Puzriakova Tag Q2_21_rating was removed from gene: RPL3L.
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	NRAP	Arina Puzriakova Tag Q2_21_rating was removed from gene: NRAP.
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	MYLK3	Arina Puzriakova Tag Q2_21_rating was removed from gene: MYLK3.
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	FLII	Arina Puzriakova Tag Q2_21_rating was removed from gene: FLII.
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	RRAGD	Arina Puzriakova Tag Q3_22_rating was removed from gene: RRAGD.
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	TBX5	Arina Puzriakova reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	SPEG	Arina Puzriakova reviewed gene: SPEG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	RRAGD	Arina Puzriakova reviewed gene: RRAGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	RPL3L	Arina Puzriakova reviewed gene: RPL3L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	NRAP	Arina Puzriakova reviewed gene: NRAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	MYLK3	Arina Puzriakova reviewed gene: MYLK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.4	FLII	Arina Puzriakova reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Dilated and arrhythmogenic cardiomyopathy v2.3	RRAGD	Arina Puzriakova Source NHS GMS was added to RRAGD.
20 Dec 2022	Dilated and arrhythmogenic cardiomyopathy v2.2	SCN5A	Arina Puzriakova Publications for gene: SCN5A were set to 20186049; 27532257
30 Nov 2022	Dilated and arrhythmogenic cardiomyopathy v2.1		Catherine Snow Panel version 2.0 has been signed off on 2022-11-30
30 Nov 2022	Dilated and arrhythmogenic cardiomyopathy v2.0		Catherine Snow promoted panel to version 2.0
10 Oct 2022	Dilated and arrhythmogenic cardiomyopathy v1.34	MYH7	Arina Puzriakova Added comment: Comment on mode of inheritance: Association with monoallelic variants is well-established. To date, only four families have been reported with recessive variants (PMIDs: 14659406; 25666907; 17372140; 31130376). Of these, one family developed dilated cardiomyopathy and one had hypertrophic cardiomyopathy, while cardiac function was normal in the remaining two families. Therefore, maintaining MOI of monoallelic only at this time but with a watchlist_moi tag to monitor for evidence linking biallelic variants linked to DCM.
10 Oct 2022	Dilated and arrhythmogenic cardiomyopathy v1.34	MYH7	Arina Puzriakova Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 Oct 2022	Dilated and arrhythmogenic cardiomyopathy v1.33	MYH7	Arina Puzriakova Tag watchlist_moi tag was added to gene: MYH7.
10 Oct 2022	Dilated and arrhythmogenic cardiomyopathy v1.33	JUP	Arina Puzriakova Phenotypes for gene: JUP were changed from Naxos disease (601214); Arrhythmogenic right ventricular dysplasia 12; Arrhythmogenic right ventricular dysplasia 12 (611528) to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
10 Oct 2022	Dilated and arrhythmogenic cardiomyopathy v1.32	DSP	Arina Puzriakova Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic (609638); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821); Arrhythmogenic right ventricular dysplasia 8 (607450); Keratosis palmoplantaris striata II (612908); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676) to Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD); Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
16 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.31	MYZAP	Ivone Leong Phenotypes for gene: MYZAP were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021
16 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.30	MYZAP	Ivone Leong Added comment: 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.
16 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.30	MYZAP	Ivone Leong 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
16 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.29	MYZAP	Ivone Leong Publications for gene: MYZAP were set to 34899865; doi:10.1101/mcs.a006221
14 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.28	RRAGD	Eleanor Williams Tag Q3_22_NHS_review was removed from gene: RRAGD.
14 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.28	RRAGD	Eleanor Williams Deleted their comment
14 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.28	RRAGD	Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM or Gene2Phenotype. As reviewer states PMID: 34607910 (Schlingmann et al 2021) reports 8 cases where patients with hypomagnesaemia were found to have heterozygous (mostly de novo) missense variants in RRAGD. 6 patients also had dilated cardiomyopathy. In addition they report a family with a heterozygous variant in RRAGD that segregated with a kidney phenotype in eight members. Abstract only accessed.; to: Not associated with a phenotype in OMIM or Gene2Phenotype. As reviewer states PMID: 34607910 (Schlingmann et al 2021) reports 8 cases where patients with hypomagnesaemia were found to have heterozygous (mostly de novo) missense variants in RRAGD. 6 patients also had dilated cardiomyopathy. In addition they report a family with a heterozygous variant in RRAGD that segregated with a kidney phenotype in eight members.
14 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.28	RRAGD	Eleanor Williams changed review comment from: Copied this gene from the Renal tubulopathies panel. In 6 cases reported in PMID: 34607910 (Schlingmann et al 2021) the probands also had dilated cardiomyopathy. Abstract only accessed.; to: Copied this gene from the Renal tubulopathies panel. In 6 cases reported in PMID: 34607910 (Schlingmann et al 2021) the probands also had dilated cardiomyopathy. The 6 patients with Dilated cardiomyopathy were diagnosed with the condition at ages between 6 months and 14 years old.
14 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.28	RRAGD	Eleanor Williams commented on gene: RRAGD: Update on PMID: 34607910 (Schlingmann et al 2021) - the 6 patients with Dilated cardiomyopathy were diagnosed with the condition at ages between 6 months and 14 years old.
11 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.28	MYZAP	Aleš Maver changed review comment from: 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 doi:10.1101/mcs.a006221). 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 10.1101/mcs.a006221 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: Other; to: 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: Other
11 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.28	MYZAP	Aleš Maver changed review comment from: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in, altogether, three families (altogether 8 patients with DCM) with recessive dilated cardiomyopathy (DCM) (34899865;doi:10.1101/mcs.a006221). Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627). Functional studies of the variant reported in 10.1101/mcs.a006221 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: Other; to: 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 doi:10.1101/mcs.a006221). 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 10.1101/mcs.a006221 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: Other
11 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.28	MYZAP	Aleš Maver 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 Added comment: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in, altogether, three families (altogether 8 patients with DCM) with recessive dilated cardiomyopathy (DCM) (34899865;doi:10.1101/mcs.a006221). Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627). Functional studies of the variant reported in 10.1101/mcs.a006221 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: Other
09 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.28	NEXN	Arina Puzriakova Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876); Cardiomyopathy, dilated, 1CC to Cardiomyopathy, dilated, 1CC, OMIM:613122
02 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.27	RRAGD	Eleanor Williams commented on gene: RRAGD: Copied this gene from the Renal tubulopathies panel. In 6 cases reported in PMID: 34607910 (Schlingmann et al 2021) the probands also had dilated cardiomyopathy. Abstract only accessed.
02 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.27	RRAGD	Eleanor Williams Entity copied from Renal tubulopathies v2.62
02 Aug 2022	Dilated and arrhythmogenic cardiomyopathy v1.27	RRAGD	Eleanor Williams gene: RRAGD was added gene: RRAGD was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Amber,Literature Q3_22_rating, Q3_22_NHS_review tags were added to gene: RRAGD. Mode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAGD were set to 34607910 Phenotypes for gene: RRAGD were set to hypomagnesaemia; cardiomyopathy; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 Penetrance for gene: RRAGD were set to Complete Mode of pathogenicity for gene: RRAGD was set to Other
10 May 2022	Dilated and arrhythmogenic cardiomyopathy v1.26	NRAP	Arina Puzriakova Tag gene-checked tag was added to gene: NRAP.
10 May 2022	Dilated and arrhythmogenic cardiomyopathy v1.26	MYLK3	Arina Puzriakova Tag gene-checked tag was added to gene: MYLK3.
27 Oct 2021	Dilated and arrhythmogenic cardiomyopathy v1.26	CRYAB	Arina Puzriakova Phenotypes for gene: CRYAB were changed from to Cardiomyopathy, dilated, 1II, OMIM:615184; Myopathy, myofibrillar, 2, OMIM:608810
12 May 2021	Dilated and arrhythmogenic cardiomyopathy v1.25	SPEG	Ivone Leong Entity copied from Cardiomyopathies - including childhood onset v1.42
12 May 2021	Dilated and arrhythmogenic cardiomyopathy v1.25	SPEG	Ivone Leong gene: SPEG was added gene: SPEG was added to Dilated cardiomyopathy - adult and teen. Sources: Literature,Expert Review Amber Q2_21_rating tags were added to gene: SPEG. Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 32925938; 33794647; 33926407 Phenotypes for gene: SPEG were set to Dilated cardiomyopathy, MONDO:0005021; Centronuclear myopathy 5, OMIM:615959
04 May 2021	Dilated and arrhythmogenic cardiomyopathy v1.24	RHBDF1	Ivone Leong Classified gene: RHBDF1 as Amber List (moderate evidence)
04 May 2021	Dilated and arrhythmogenic cardiomyopathy v1.24	RHBDF1	Ivone Leong Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
04 May 2021	Dilated and arrhythmogenic cardiomyopathy v1.23	RHBDF1	Ivone Leong gene: RHBDF1 was added gene: RHBDF1 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature watchlist tags were added to gene: RHBDF1. Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHBDF1 were set to 32870709 Review for gene: RHBDF1 was set to AMBER Added comment: This gene is rated Amber on the Cardiomyopathies - including childhood onset (Version 1.39) panel with the following reviews: "Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. Ivone Leong (Genomics England Curator), 20 Apr 2021" "Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant. Sources: Literature Zornitza Stark (Australian Genomics), 16 Apr 2021" Sources: Literature
20 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.22	MYLK3	Ivone Leong Classified gene: MYLK3 as Amber List (moderate evidence)
20 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.22	MYLK3	Ivone Leong Gene: mylk3 has been classified as Amber List (Moderate Evidence).
20 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.21	MYLK3	Ivone Leong gene: MYLK3 was added gene: MYLK3 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature Q2_21_rating tags were added to gene: MYLK3. Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709; 30690923 Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy, MONDO:0005021 Review for gene: MYLK3 was set to GREEN Added comment: This gene is also on the Cardiomyopathies - including childhood onset (Version 1.35) as an Amber gene with a recommendation of promoting to Green. This gene is not associated with a phenotype on OMIM or Gene2Phenotype. PMID: 29235529 describes 2 families with heterozygous variant in this gene. Family A - 2 sibs diagnosed with DCM at 9 and 10 months of age and affected mother diagnosed with DCM at 40 yo. As the children had a more severe phenotype and earlier onset than the mother the authors did further analysis and found the sibs had an additional variant in FLNC, which is also linked to DCM. The authors suggest this additional variant could account for the more severe phenotype in the children. Family B - 2 brothers diagnosed with DCM at 56 and 52 yo, both have a heterozygous frameshift variant in this gene. Mother and sister had died young and DCM diagnosis is inconclusive. PMID: 30690923 describes another case. Proband has a heterozygous frameshift variant in this gene. Rest of the family have no cardiac phenotype and no variants in this gene except for one daughter. Daughter has the same variant and has dilation of LV and ST-T abnormalities but these do not meet the criteria for DCM. PMID: 32870709 describes three consanguineous families with homozygous variants in this gene. Review from Zornitza Stark: "Rating: I don't know Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models. Sources: Literature Created: 16 Apr 2021, 9:24 a.m." There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. Sources: Literature
20 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.20	NRAP	Ivone Leong Publications for gene: NRAP were set to 30384889; 33534821; 28611399; https://doi.org/10.1101/2020.10.12.20211474
16 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.19	FLII	Ivone Leong Classified gene: FLII as Amber List (moderate evidence)
16 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.19	FLII	Ivone Leong Gene: flii has been classified as Amber List (Moderate Evidence).
16 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.18	FLII	Ivone Leong gene: FLII was added gene: FLII was added to Dilated cardiomyopathy - adult and teen. Sources: Literature Q2_21_rating tags were added to gene: FLII. Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLII were set to 32870709 Phenotypes for gene: FLII were set to Dilated cardiomyopathy, MONDO:0005021 Review for gene: FLII was set to GREEN Added comment: This gene is also on Cardiomyopathies - including childhood onset (Version 1.30). "Two unrelated families reported with homozygous missense variants in PMID 32870709. Geng (2021): Shown to affect sarcomere size in Drosophila model. FliI knockdown resulted in disorganised myofibrils and increase filamentous actin. Campbell (2002): Hom mice - lethal, het - normal. K/O mouse model of related genes have cytoskeletal actin alterations. No survivors to observed cardiac phenotypes. We are aware of a third family ascertained through our laboratory. Sources: Literature Zornitza Stark (Australian Genomics), 15 Apr 2021" This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. Sources: Literature
16 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.17	RPL3L	Ivone Leong Classified gene: RPL3L as Amber List (moderate evidence)
16 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.17	RPL3L	Ivone Leong Gene: rpl3l has been classified as Amber List (Moderate Evidence).
16 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.16	RPL3L	Ivone Leong gene: RPL3L was added gene: RPL3L was added to Dilated cardiomyopathy - adult and teen. Sources: Literature Q2_21_rating tags were added to gene: RPL3L. Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPL3L were set to 32514796; 32870709 Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021 Review for gene: RPL3L was set to GREEN Added comment: This gene is also present on the Cardiomyopathies - including childhood onset (Version 1.26) panel. Review by Zornitza Stark: "PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype." This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. Sources: Literature
15 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.15	NRAP	Zornitza Stark reviewed gene: NRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33534821, 30384889, 28611399, 32870709; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
15 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.15	TBX5	Ivone Leong Classified gene: TBX5 as Amber List (moderate evidence)
15 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.15	TBX5	Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-disease association. This gene should be rated Green at the next review.
15 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.15	TBX5	Ivone Leong Gene: tbx5 has been classified as Amber List (Moderate Evidence).
15 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.14	TBX5	Ivone Leong Tag Q2_21_rating tag was added to gene: TBX5.
14 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.14	TBX5	Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, 142900; Dilated cardiomyopathy to Holt-Oram syndrome, OMIM:142900; Dilated cardiomyopathy
08 Apr 2021	Dilated and arrhythmogenic cardiomyopathy v1.13	RYR2	Matthew Edwards changed review comment from: On CGGL Royal Brompton DCM panel. Definitive ARVC/CPVT gene, appropriate for DCM panel due to possible phenotypic overlap. some evidence for exon 3 deletion specifically associated with DCM.; to: On CGGL Royal Brompton DCM panel. Definitive CPVT gene, appropriate for DCM panel due to possible phenotypic overlap as some evidence for exon 3 deletion specifically associated with DCM.
25 Feb 2021	Dilated and arrhythmogenic cardiomyopathy v1.13	NRAP	Ivone Leong Classified gene: NRAP as Amber List (moderate evidence)
25 Feb 2021	Dilated and arrhythmogenic cardiomyopathy v1.13	NRAP	Ivone Leong Gene: nrap has been classified as Amber List (Moderate Evidence).
25 Feb 2021	Dilated and arrhythmogenic cardiomyopathy v1.12	NRAP	Ivone Leong gene: NRAP was added gene: NRAP was added to Dilated cardiomyopathy - adult and teen. Sources: Literature Q2_21_rating tags were added to gene: NRAP. Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRAP were set to 30384889; 33534821; 28611399; https://doi.org/10.1101/2020.10.12.20211474 Phenotypes for gene: NRAP were set to Dilated cardiomyopathy, MONDO:0005021 Review for gene: NRAP was set to GREEN Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene and having DCM. https://doi.org/10.1101/2020.10.12.20211474 also describes a CRISPR knockout zebrafish which had a cardiac phenotype. Therefore, there is enough evidence to support a gene-disease association and this gene is recommended to be promoted Green at the next panel review. Sources: Literature
04 Jan 2021	Dilated and arrhythmogenic cardiomyopathy v1.11	FLNC	Arina Puzriakova Phenotypes for gene: FLNC were changed from arrythmogenic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5; Myopathy, myofibrillar, 5 to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289
21 Dec 2020	Dilated and arrhythmogenic cardiomyopathy v1.10	SLC6A6	Ivone Leong Classified gene: SLC6A6 as Amber List (moderate evidence)
21 Dec 2020	Dilated and arrhythmogenic cardiomyopathy v1.10	SLC6A6	Ivone Leong Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
21 Dec 2020	Dilated and arrhythmogenic cardiomyopathy v1.9	SLC6A6	Ivone Leong gene: SLC6A6 was added gene: SLC6A6 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature watchlist tags were added to gene: SLC6A6. Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034; 17875433; 20804595 Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy Review for gene: SLC6A6 was set to AMBER Added comment: This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases with early retinal degeneration and only 2 cases had DCM (PMID: 31903486 and 29886034). The case described in PMID: 29886034 did not report any segregation results for the affected individual with DCM. The case described in 29886034, affected individuals were treated with taurine for 2 years and the cardiomyopathy was corrected. The mouse model (PMID: 20804595) is a KO taurine transporter showed a cardiac. Sources: Literature
02 Dec 2020	Dilated and arrhythmogenic cardiomyopathy v1.8	MYH7	Arina Puzriakova Phenotypes for gene: MYH7 were changed from Cardiomyopathy, dilated, 1S (613426); Cardiomyopathy, dilated, 1S; Myopathy, myosin storage, autosomal recessive (255160); Scapuloperoneal syndrome, myopathic type (181430); Myopathy, myosin storage, autosomal dominant (608358); Cardiomyopathy, hypertrophic, 1 (192600); Left ventricular noncompaction 5 (613426); Laing distal myopathy (160500) to Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050
15 Oct 2020	Dilated and arrhythmogenic cardiomyopathy v1.7		Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off Panel version has been signed off
06 Oct 2020	Dilated and arrhythmogenic cardiomyopathy v1.6	TBX5	Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy to Holt-Oram syndrome, 142900; Dilated cardiomyopathy
05 Oct 2020	Dilated and arrhythmogenic cardiomyopathy v1.5	TBX5	Zornitza Stark gene: TBX5 was added gene: TBX5 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX5 were set to 32449309; 32236096; 25963046; 25725155 Phenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy Review for gene: TBX5 was set to GREEN gene: TBX5 was marked as current diagnostic Added comment: 8 individuals from 4 unrelated families reported in PMID 32449309, relatively mild skeletal manifestations of HOS and DCM a prominent feature in several. Note previous reports, and supportive mouse model. Sources: Literature
20 Aug 2020	Dilated and arrhythmogenic cardiomyopathy v1.5		Ivone Leong Panel version has been signed off
02 Jun 2020	Dilated and arrhythmogenic cardiomyopathy v1.3	DMD	Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
19 Feb 2020	Dilated and arrhythmogenic cardiomyopathy v1.3		Sarah Leigh Panel version has been signed off
13 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v1.1		Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v1.0		Ivone Leong promoted panel to version 1.0
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.63		Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.62	TNNI3K	Ivone Leong Source Expert Review Green was added to TNNI3K. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.62	TNNC1	Ivone Leong Source Expert Review Green was added to TNNC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.62	RYR2	Ivone Leong Source Expert Review Green was added to RYR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.62	NEXN	Ivone Leong Source Expert Review Green was added to NEXN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.62	MYBPC3	Ivone Leong Source Expert Review Green was added to MYBPC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.62	EMD	Ivone Leong Source Expert Review Green was added to EMD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.62	DOLK	Ivone Leong Source Expert Review Green was added to DOLK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.62	CDH2	Ivone Leong Source Expert Review Green was added to CDH2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.62	ACTN2	Ivone Leong Source Expert Review Green was added to ACTN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.61	TNNI3K	Kate Thomson reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.61	TNNC1	Kate Thomson reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.61	RYR2	Kate Thomson reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.61	NEXN	Kate Thomson reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.61	MYBPC3	Kate Thomson reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.61	EMD	Kate Thomson reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.61	DOLK	Kate Thomson reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.61	CDH2	Kate Thomson reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.61	ACTN2	Kate Thomson reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
04 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.60		Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.59	FKTN	Ivone Leong Publications for gene: FKTN were set to
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.58	FKRP	Ivone Leong Mode of inheritance for gene: FKRP was changed from to BIALLELIC, autosomal or pseudoautosomal
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.57	TTN	Ivone Leong Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.56	SCN5A	Ivone Leong Mode of inheritance for gene: SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.55	MYH7	Ivone Leong Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.54	LMNA	Ivone Leong Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.53	LAMP2	Ivone Leong Phenotypes for gene: LAMP2 were changed from Danon disease (OMIM: 300257) to Danon disease (300257)
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	GATA6	Ivone Leong reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	VCL	Ivone Leong reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	TTN	Ivone Leong reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	TPM1	Ivone Leong reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	TNNT2	Ivone Leong reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	TNNI3K	Ivone Leong reviewed gene: TNNI3K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	TNNI3	Ivone Leong reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	TNNC1	Ivone Leong reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	TMEM43	Ivone Leong commented on gene: TMEM43: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	TCAP	Ivone Leong reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	TBX20	Ivone Leong reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	SGCD	Ivone Leong reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	SCN5A	Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	RYR2	Ivone Leong edited their review of gene: RYR2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. Demoted from Green to Amber. The group has agreed that this gene should be Amber on this panel. Testing should involve dosage analysis only in this gene.; Changed rating: AMBER
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	RBM20	Ivone Leong reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	PRDM16	Ivone Leong reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	PLN	Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	PKP2	Ivone Leong commented on gene: PKP2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	NKX2-5	Ivone Leong reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	NEXN	Ivone Leong reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	MYPN	Ivone Leong reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	MYH7	Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	MYBPC3	Ivone Leong reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	LMNA	Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	LDB3	Ivone Leong reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	LAMP2	Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	JUP	Ivone Leong commented on gene: JUP: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	GATAD1	Ivone Leong reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	FLNC	Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	FKTN	Ivone Leong reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	FKRP	Ivone Leong reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	FHOD3	Ivone Leong reviewed gene: FHOD3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	EYA4	Ivone Leong reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	EMD	Ivone Leong reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	DSP	Ivone Leong commented on gene: DSP: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	DSG2	Ivone Leong commented on gene: DSG2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	DSC2	Ivone Leong commented on gene: DSC2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	DOLK	Ivone Leong reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	DMD	Ivone Leong reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	DES	Ivone Leong edited their review of gene: DES: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	CSRP3	Ivone Leong reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	CRYAB	Ivone Leong reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	CDH2	Ivone Leong reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	BAG3	Ivone Leong reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	ANKRD1	Ivone Leong reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	ANK2	Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	ACTN2	Ivone Leong reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	ACTC1	Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.52	ABCC9	Ivone Leong reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	RYR2	Ivone Leong Source Expert Review Amber was added to RYR2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	GATA6	Ivone Leong gene: GATA6 was added gene: GATA6 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	EYA4	Ivone Leong Source Expert Review Red was added to EYA4. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	ABCC9	Ivone Leong Source Expert Review Red was added to ABCC9. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	LAMP2	Ivone Leong Source Expert Review Green was added to LAMP2. Rating Changed from Red List (low evidence) to Green List (high evidence)
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	FLNC	Ivone Leong Source Expert Review Green was added to FLNC. Rating Changed from Red List (low evidence) to Green List (high evidence)
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	DMD	Ivone Leong Source Expert Review Green was added to DMD. Rating Changed from Red List (low evidence) to Green List (high evidence)
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	BAG3	Ivone Leong Source Expert Review Green was added to BAG3. Rating Changed from Red List (low evidence) to Green List (high evidence)
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	ACTC1	Ivone Leong Source Expert Review Green was added to ACTC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	NKX2-5	Ivone Leong gene: NKX2-5 was added gene: NKX2-5 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	EMD	Ivone Leong gene: EMD was added gene: EMD was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	ANK2	Ivone Leong gene: ANK2 was added gene: ANK2 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	TNNI3K	Ivone Leong gene: TNNI3K was added gene: TNNI3K was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	FKRP	Ivone Leong gene: FKRP was added gene: FKRP was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FKRP was set to
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	FHOD3	Ivone Leong gene: FHOD3 was added gene: FHOD3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: FHOD3 was set to
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	DOLK	Ivone Leong gene: DOLK was added gene: DOLK was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	CDH2	Ivone Leong gene: CDH2 was added gene: CDH2 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	TBX20	Ivone Leong gene: TBX20 was added gene: TBX20 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	PRDM16	Ivone Leong gene: PRDM16 was added gene: PRDM16 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	MYPN	Ivone Leong gene: MYPN was added gene: MYPN was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	LDB3	Ivone Leong gene: LDB3 was added gene: LDB3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	GATAD1	Ivone Leong gene: GATAD1 was added gene: GATAD1 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: GATAD1 was set to
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	CRYAB	Ivone Leong gene: CRYAB was added gene: CRYAB was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Dec 2019	Dilated and arrhythmogenic cardiomyopathy v0.51	ANKRD1	Ivone Leong gene: ANKRD1 was added gene: ANKRD1 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Oct 2019	Dilated and arrhythmogenic cardiomyopathy v0.50	FKTN	James Eden reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 19015585, 17036286, 27521547; Phenotypes: Cardiomyopathy, dilated, 1X 611615, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Oct 2019	Dilated and arrhythmogenic cardiomyopathy v0.50	LAMP2	Ellen McDonagh Classified gene: LAMP2 as Red List (low evidence)
03 Oct 2019	Dilated and arrhythmogenic cardiomyopathy v0.50	LAMP2	Ellen McDonagh Gene: lamp2 has been classified as Red List (Low Evidence).
03 Oct 2019	Dilated and arrhythmogenic cardiomyopathy v0.49	FLNC	Ellen McDonagh Classified gene: FLNC as Red List (low evidence)
03 Oct 2019	Dilated and arrhythmogenic cardiomyopathy v0.49	FLNC	Ellen McDonagh Gene: flnc has been classified as Red List (Low Evidence).
03 Oct 2019	Dilated and arrhythmogenic cardiomyopathy v0.48	DMD	Ellen McDonagh Classified gene: DMD as Red List (low evidence)
03 Oct 2019	Dilated and arrhythmogenic cardiomyopathy v0.48	DMD	Ellen McDonagh Gene: dmd has been classified as Red List (Low Evidence).
03 Oct 2019	Dilated and arrhythmogenic cardiomyopathy v0.47	BAG3	Ellen McDonagh Classified gene: BAG3 as Red List (low evidence)
03 Oct 2019	Dilated and arrhythmogenic cardiomyopathy v0.47	BAG3	Ellen McDonagh Gene: bag3 has been classified as Red List (Low Evidence).
27 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.46	NEXN	James Eden edited their review of gene: NEXN: Changed rating: AMBER
27 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.46	MYBPC3	James Eden Deleted their comment
27 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.46	MYBPC3	James Eden edited their review of gene: MYBPC3: Added comment: Gene currently tested on Manchester DCM panel. Currently no stated association with DCM on ClinGen Knowledge Base. Cardiodb.org/ACGV: excess of MYBPC3 in cases vs controls = 0.53% (p=0.2002).; Changed rating: RED
27 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.46	RYR2	James Eden Deleted their comment
27 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.46	RYR2	James Eden edited their review of gene: RYR2: Added comment: RYR2 is not currently tested in Manchester for DCM. RYR2 (whole gene) is associated with ARVD and CPVT on OMIM. Limited association of RYR2 variants with DCM. The RYR2 exon 3 deletion was reported in one article in 2 families with CPVT combined with additional features of dilated cardiomyopathy (https://www.ncbi.nlm.nih.gov/pubmed/17875969). This deletion is more commonly associated with LVNC cardiomyopathy in the literature (https://www.ncbi.nlm.nih.gov/pubmed/24394973, https://www.ncbi.nlm.nih.gov/pubmed/26018045).; Changed rating: AMBER; Changed publications: 17875969
27 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.46	RYR2	James Eden reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: None; Publications: 24394973, 26018045, 22374134, 16828071; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 600996, Ventricular tachycardia, catecholaminergic polymorphic, 1 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
26 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.46	DMD	Ivone Leong Phenotypes for gene: DMD were changed from OMIM: 300376 Becker muscular dystrophy; 302045 Cardiomyopathy, dilated, 3B; 310200 Duchenne muscular dystrophy to Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200
26 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.45	BAG3	Ivone Leong Phenotypes for gene: BAG3 were changed from OMIM 613881: Cardiomyopathy, dilated, 1HH; 612954 Myopathy, myofibrillar, 6 to Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954
25 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	MYBPC3	James Eden reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1MM (615396), Cardiomyopathy, hypertrophic, 4 (115197), Left ventricular noncompaction 10 (615396); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
25 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	MYBPC3	James Eden Deleted their review
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	CSRP3	Matthew Edwards reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	ACTN2	Matthew Edwards reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	ABCC9	Matthew Edwards reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	NEXN	Matthew Edwards changed review comment from: On CGGL Royal Brompton DCM panel currently. Only VUS reported to date (but quite a few) moderate evidence in literature - Animal model for DCM phenotype (zebrafish), and some limited segregation. (LOF likely disease mechanism); to: On CGGL Royal Brompton DCM panel currently. Only VUS reported to date (but quite a few) moderate evidence in literature - Animal model for DCM phenotype (zebrafish), and some limited segregation. (LOF likely disease mechanism). Keep as amber for now.
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	NEXN	Matthew Edwards reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: None; Publications: 19881492; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	LAMP2	Matthew Edwards gene: LAMP2 was added gene: LAMP2 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature,NHS GMS Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to 21415759; 12084876 Phenotypes for gene: LAMP2 were set to Danon disease (OMIM: 300257) Review for gene: LAMP2 was set to GREEN gene: LAMP2 was marked as current diagnostic Added comment: Gene on Royal Brompton diagnostic panel, metabolic glycogen storage disease, phenocopy for DCM/DCM part of clinical picture Sources: Literature, NHS GMS
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	FLNC	Matthew Edwards gene: FLNC was added gene: FLNC was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Literature Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FLNC were set to 30067491; 28008423 Phenotypes for gene: FLNC were set to arrythmogenic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5; Myopathy, myofibrillar, 5 Review for gene: FLNC was set to GREEN gene: FLNC was marked as current diagnostic Added comment: On Royal Brompton diagnostic panel, and pathogenic variants reported in phenotypes of arrythmogenic cardiomyopathy with fibrosis (LOF variants). Some good evidence of DCM association in literature. On basis of clinical overlap, this should be on DCM panels. Sources: NHS GMS, Literature
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	DMD	Matthew Edwards gene: DMD was added gene: DMD was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Literature Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: DMD were set to GeneReviews: Dystrophinopathies Phenotypes for gene: DMD were set to OMIM: 300376 Becker muscular dystrophy; 302045 Cardiomyopathy, dilated, 3B; 310200 Duchenne muscular dystrophy Review for gene: DMD was set to GREEN gene: DMD was marked as current diagnostic Added comment: On CGGL Royal Brompton DCM panel. Pathogenic variants detected in isolated DCM cases and BMD cases (wher DCM part of clinical picture) Sources: NHS GMS, Literature
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	ACTC1	Matthew Edwards reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	VCL	Matthew Edwards reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	TTN	Matthew Edwards reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25589632, 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	TPM1	Matthew Edwards reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	TNNT2	Matthew Edwards reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257, 20031601; Phenotypes: OMIM: 601494 Cardiomyopathy, dilated, 1D; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	TNNI3	Matthew Edwards reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	TMEM43	Matthew Edwards reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	DSC2	Matthew Edwards changed review comment from: On CGGL Royal Brompton DCm panel. Definitive ARVC gene, appropriate for DCM panel due to possible phenotypic overlap; to: On CGGL Royal Brompton DCM panel. Definitive ARVC gene, appropriate for DCM panel due to possible phenotypic overlap
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	SCN5A	Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257, Wilde & Amin JACC: Clinical Electrophysiology Volume 4, Issue 5, May 2018; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	RYR2	Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	RBM20	Matthew Edwards reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: OMIM: 613172 Cardiomyopathy, dilated, 1DD; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	PLN	Matthew Edwards reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: OMIM: 609909 Cardiomyopathy, dilated, 1P; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	PKP2	Matthew Edwards reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	MYH7	Matthew Edwards reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	LMNA	Matthew Edwards reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: (GeneReviews: LMNA-Related Dilated Cardiomyopathy); Phenotypes: OMIM: 11520 Cardiomyopathy, dilated, 1A; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	JUP	Matthew Edwards reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	DSP	Matthew Edwards reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	DSG2	Matthew Edwards reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	DSC2	Matthew Edwards reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	BAG3	Matthew Edwards gene: BAG3 was added gene: BAG3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAG3 were set to 30442290; 28737513; 28211974 Phenotypes for gene: BAG3 were set to OMIM 613881: Cardiomyopathy, dilated, 1HH; 612954 Myopathy, myofibrillar, 6 Review for gene: BAG3 was set to GREEN gene: BAG3 was marked as current diagnostic Added comment: On CGGL Royal Brompton DCM panel. Several pathogenic and likely pathogenic variants (incl CNVs) detected on diagnostic testing with some segregation data. Good evidence in literature. Sources: NHS GMS
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	DES	Matthew Edwards reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 19181099; Phenotypes: OMIM: 604765 Cardiomyopathy, dilated, 1I, OMIM: 601419 Myopathy, myofibrillar, 1; Mode of inheritance: None; Current diagnostic: yes
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	DES	Matthew Edwards Deleted their review
19 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	DES	Matthew Edwards reviewed gene: DES: Rating: ; Mode of pathogenicity: None; Publications: 19181099 (review); Phenotypes: OMIM: 604765 Cardiomyopathy, dilated, 1I, OMIM: 601419 Myopathy, myofibrillar, 1; Mode of inheritance: None; Current diagnostic: yes
12 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.44	TTN	Ivone Leong Publications for gene: TTN were set to 20186049; 27532257
12 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.43	TNNT2	Ivone Leong Publications for gene: TNNT2 were set to 20186049; 27532257
12 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.42	TNNI3	Ivone Leong Publications for gene: TNNI3 were set to 20186049; 27532257
12 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.41	RYR2	Ivone Leong Phenotypes for gene: RYR2 were changed from Arrhythmogenic right ventricular dysplasia 2 to Arrhythmogenic right ventricular dysplasia 2; Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
12 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.40	RYR2	Ivone Leong Publications for gene: RYR2 were set to 20301310
09 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.39		Ivone Leong List of related panels changed from to R132
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.37	TMEM43	Ivone Leong reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.37	RYR2	Ivone Leong reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.37	PKP2	Ivone Leong reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.37	JUP	Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.37	DSP	Ivone Leong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.37	DSG2	Ivone Leong reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.37	DSC2	Ivone Leong reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.36	TMEM43	Ivone Leong gene: TMEM43 was added gene: TMEM43 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM43 were set to 23812740; 27532257 Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.36	RYR2	Ivone Leong gene: RYR2 was added gene: RYR2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR2 were set to 20301310 Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.36	PKP2	Ivone Leong gene: PKP2 was added gene: PKP2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKP2 were set to 23500315; 27532257 Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular dysplasia 9 (609040)
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.36	JUP	Ivone Leong gene: JUP was added gene: JUP was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: JUP were set to 23500315; 27532257 Phenotypes for gene: JUP were set to Naxos disease (601214); Arrhythmogenic right ventricular dysplasia 12; Arrhythmogenic right ventricular dysplasia 12 (611528)
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.36	DSP	Ivone Leong gene: DSP was added gene: DSP was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSP were set to 23500315; 27532257 Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic (609638); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821); Arrhythmogenic right ventricular dysplasia 8 (607450); Keratosis palmoplantaris striata II (612908); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.36	DSG2	Ivone Leong gene: DSG2 was added gene: DSG2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DSG2 were set to 23500315; 27532257 Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10; Arrhythmogenic right ventricular dysplasia 10 (610193); Cardiomyopathy, dilated, 1BB (612877)
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.36	DSC2	Ivone Leong gene: DSC2 was added gene: DSC2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSC2 were set to 23500315; 27532257 Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476); Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 (610476)
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.35	DES	Ivone Leong Classified gene: DES as Green List (high evidence)
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.35	DES	Ivone Leong Added comment: Comment on list classification: DES is a green gene on the Arrhythmogenic cardiomyopathy (code: 134, version 1.25). It has been promoted from amber to green in this panel as the GMS Cardiology Specialist Group decided that all green genes that are present on the Arrhythmogenic cardiomyopathy panel should also be green on this panel because of the overlap in clinical presentation.
04 Sep 2019	Dilated and arrhythmogenic cardiomyopathy v0.35	DES	Ivone Leong Gene: des has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.31	PLN	Ellen McDonagh Classified gene: PLN as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.31	PLN	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.31	PLN	Ellen McDonagh Gene: pln has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.30	VCL	Ellen McDonagh Classified gene: VCL as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.30	VCL	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.30	VCL	Ellen McDonagh Gene: vcl has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.29	TTN	Ellen McDonagh Classified gene: TTN as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.29	TTN	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.29	TTN	Ellen McDonagh Gene: ttn has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.28	TPM1	Ellen McDonagh Classified gene: TPM1 as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.28	TPM1	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.28	TPM1	Ellen McDonagh Gene: tpm1 has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.27	TPM1	Ellen McDonagh Classified gene: TPM1 as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.27	TPM1	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.27	TPM1	Ellen McDonagh Gene: tpm1 has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.26	TNNT2	Ellen McDonagh Classified gene: TNNT2 as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.26	TNNT2	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.26	TNNT2	Ellen McDonagh Gene: tnnt2 has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.25	TNNI3	Ellen McDonagh Classified gene: TNNI3 as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.25	TNNI3	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.25	TNNI3	Ellen McDonagh Gene: tnni3 has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.24	SCN5A	Ellen McDonagh Classified gene: SCN5A as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.24	SCN5A	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.24	SCN5A	Ellen McDonagh Gene: scn5a has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.23	RBM20	Ellen McDonagh Classified gene: RBM20 as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.23	RBM20	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.23	RBM20	Ellen McDonagh Gene: rbm20 has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.22	TNNC1	Ellen McDonagh Classified gene: TNNC1 as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.22	TNNC1	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.22	TNNC1	Ellen McDonagh Gene: tnnc1 has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.21	TCAP	Ellen McDonagh Classified gene: TCAP as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.21	TCAP	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.21	TCAP	Ellen McDonagh Gene: tcap has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.20	SGCD	Ellen McDonagh Classified gene: SGCD as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.20	SGCD	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has Red/Amber reviews from these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.20	SGCD	Ellen McDonagh Gene: sgcd has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.19	NEXN	Ellen McDonagh Classified gene: NEXN as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.19	NEXN	Ellen McDonagh Gene: nexn has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.18	NEXN	Ellen McDonagh Classified gene: NEXN as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.18	NEXN	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.18	NEXN	Ellen McDonagh Gene: nexn has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.17	MYH7	Ellen McDonagh Classified gene: MYH7 as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.17	MYH7	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.17	MYH7	Ellen McDonagh Gene: myh7 has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.16	MYH6	Ellen McDonagh Classified gene: MYH6 as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.16	MYH6	Ellen McDonagh Gene: myh6 has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.15	MYH6	Ellen McDonagh Classified gene: MYH6 as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.15	MYH6	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.15	MYH6	Ellen McDonagh Gene: myh6 has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.14	MYBPC3	Ellen McDonagh Classified gene: MYBPC3 as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.14	MYBPC3	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.14	MYBPC3	Ellen McDonagh Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.13	LMNA	Ellen McDonagh Classified gene: LMNA as Green List (high evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.13	LMNA	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.13	LMNA	Ellen McDonagh Gene: lmna has been classified as Green List (High Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.12	FKTN	Ellen McDonagh Classified gene: FKTN as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.12	FKTN	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.12	FKTN	Ellen McDonagh Gene: fktn has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.11	EYA4	Ellen McDonagh Classified gene: EYA4 as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.11	EYA4	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.11	EYA4	Ellen McDonagh Gene: eya4 has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.10	DES	Ellen McDonagh Classified gene: DES as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.10	DES	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.10	DES	Ellen McDonagh Gene: des has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.9	CSRP3	Ellen McDonagh Classified gene: CSRP3 as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.9	CSRP3	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.9	CSRP3	Ellen McDonagh Gene: csrp3 has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.8	ACTN2	Ellen McDonagh Classified gene: ACTN2 as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.8	ACTN2	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.8	ACTN2	Ellen McDonagh Gene: actn2 has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.7	ACTC1	Ellen McDonagh Classified gene: ACTC1 as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.7	ACTC1	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.7	ACTC1	Ellen McDonagh Gene: actc1 has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.6	ABCC9	Ellen McDonagh Classified gene: ABCC9 as Amber List (moderate evidence)
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.6	ABCC9	Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.6	ABCC9	Ellen McDonagh Gene: abcc9 has been classified as Amber List (Moderate Evidence).
24 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.4		Ellen McDonagh Panel status changed from internal to public
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.2		Ellen McDonagh Panel types changed to GMS Rare Disease
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	VCL	Ellen McDonagh gene: VCL was added gene: VCL was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VCL were set to 20186049; 27532257 Phenotypes for gene: VCL were set to Cardiomyopathy, dilated, 1W; Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	TTN	Ellen McDonagh gene: TTN was added gene: TTN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: TTN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TTN were set to 20186049; 27532257 Phenotypes for gene: TTN were set to Myopathy, proximal, with early respiratory muscle involvement (603689); Cardiomyopathy, familial hypertrophic, 9 (613765); Tibial muscular dystrophy, tardive (600334); Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807); Cardiomyopathy, dilated, 1G (604145); Salih myopathy (611705); Cardiomyopathy, dilated, 1G
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	TPM1	Ellen McDonagh gene: TPM1 was added gene: TPM1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TPM1 were set to 20186049; 27532257 Phenotypes for gene: TPM1 were set to Cardiomyopathy, dilated, 1Y; Cardiomyopathy, dilated, 1Y (611878); Cardiomyopathy, hypertrophic, 3 (115196); Left ventricular noncompaction 9 ( 611878)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	TNNT2	Ellen McDonagh gene: TNNT2 was added gene: TNNT2 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNT2 were set to 20186049; 27532257 Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3 (612422); Cardiomyopathy, hypertrophic, 2 (115195); Cardiomyopathy, dilated, 1D (601494); Left ventricular noncompaction 6 (601494)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	TNNI3	Ellen McDonagh gene: TNNI3 was added gene: TNNI3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TNNI3 were set to 20186049; 27532257 Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, dilated, 2A,; ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, familial restrictive, 1 (115210); Cardiomyopathy, dilated, 1FF; Cardiomyopathy, hypertrophic, 7 (613690)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	TNNC1	Ellen McDonagh gene: TNNC1 was added gene: TNNC1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNC1 were set to 20186049; 27532257 Phenotypes for gene: TNNC1 were set to Cardiomyopathy, hypertrophic, 13 (613243); Cardiomyopathy, dilated, 1Z; Cardiomyopathy, dilated, 1Z (611879)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	TCAP	Ellen McDonagh gene: TCAP was added gene: TCAP was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: TCAP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TCAP were set to 15582318; 20186049; 27532257 Phenotypes for gene: TCAP were set to Cardiomyopathy, hypertrophic, 25 (607487); Cardiomyopathy, dilated, 1N; Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	SGCD	Ellen McDonagh gene: SGCD was added gene: SGCD was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: SGCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SGCD were set to 19259135; 20186049; 27532257 Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287); Cardiomyopathy, dilated, 1L; Cardiomyopathy, dilated, 1L (606685)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	SCN5A	Ellen McDonagh gene: SCN5A was added gene: SCN5A was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN5A were set to 20186049; 27532257 Phenotypes for gene: SCN5A were set to Cardiomyopathy, dilated, 1E
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	RBM20	Ellen McDonagh gene: RBM20 was added gene: RBM20 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBM20 were set to 20186049; 27532257 Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD; Cardiomyopathy, dilated, 1DD (613172)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	PLN	Ellen McDonagh gene: PLN was added gene: PLN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLN were set to 20186049; 27532257 Phenotypes for gene: PLN were set to Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, dilated, 1P; Cardiomyopathy, hypertrophic, 18 (613874)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	NEXN	Ellen McDonagh gene: NEXN was added gene: NEXN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEXN were set to 19881492; 27532257 Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876); Cardiomyopathy, dilated, 1CC
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	MYH7	Ellen McDonagh gene: MYH7 was added gene: MYH7 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH7 were set to 20186049; 27532257 Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S (613426); Cardiomyopathy, dilated, 1S; Myopathy, myosin storage, autosomal recessive (255160); Scapuloperoneal syndrome, myopathic type (181430); Myopathy, myosin storage, autosomal dominant (608358); Cardiomyopathy, hypertrophic, 1 (192600); Left ventricular noncompaction 5 (613426); Laing distal myopathy (160500)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	MYH6	Ellen McDonagh gene: MYH6 was added gene: MYH6 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH6 were set to 15998695; 27532257 Phenotypes for gene: MYH6 were set to Cardiomyopathy, hypertrophic, 14 (613251); Cardiomyopathy, dilated, 1EE (613252); {Sick sinus syndrome 3} (614090); Atrial septal defect 3 (614089); Cardiomyopathy, dilated, 1EE
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	MYBPC3	Ellen McDonagh gene: MYBPC3 was added gene: MYBPC3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYBPC3 were set to 20186049; 27532257 Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4 (115197); Left ventricular noncompaction 10 (615396); Cardiomyopathy, dilated, 1MM (615396)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	LMNA	Ellen McDonagh gene: LMNA was added gene: LMNA was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LMNA were set to 20186049; 27532257 Phenotypes for gene: LMNA were set to Muscular dystrophy, congenital (613205); Malouf syndrome (212112); Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Heart-hand syndrome, Slovenian type (610140); Hutchinson-Gilford progeria (176670); Cardiomyopathy, dilated, 1A (115200); Restrictive dermopathy, lethal (275210); Lipodystrophy, familial partial, type 2 (151660); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Charcot-Marie-Tooth disease, type 2B1 (605588); Mandibuloacral dysplasia (248370); Cardiomyopathy, dilated, 1A
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	FKTN	Ellen McDonagh gene: FKTN was added gene: FKTN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to Dilated Cardiomyopathy, Recessive; Cardiomyopathy, dilated, 1X
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	EYA4	Ellen McDonagh gene: EYA4 was added gene: EYA4 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EYA4 were set to 27532257; 15735644 Phenotypes for gene: EYA4 were set to ?Cardiomyopathy, dilated, 1J (605362); Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10 (601316)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	DES	Ellen McDonagh gene: DES was added gene: DES was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DES were set to 20186049; 27532257 Phenotypes for gene: DES were set to Scapuloperoneal syndrome, neurogenic, Kaeser type (181400); Myopathy, myofibrillar, 1 (601419); Cardiomyopathy, dilated, 1I, (604765); Cardiomyopathy, dilated, 1I,
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	CSRP3	Ellen McDonagh gene: CSRP3 was added gene: CSRP3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSRP3 were set to 18505755; 27532257 Phenotypes for gene: CSRP3 were set to ?Cardiomyopathy, dilated, 1M (607482); Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12 (612124)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	ACTN2	Ellen McDonagh gene: ACTN2 was added gene: ACTN2 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,South West GLH,UKGTN Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTN2 were set to 25224718; 27532257; 26312134 Phenotypes for gene: ACTN2 were set to Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158); Cardiomyopathy, dilated, 1AA, with or without LVNC (612158); Dilated Cardiomyopathy, Dominant
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	ACTC1	Ellen McDonagh gene: ACTC1 was added gene: ACTC1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTC1 were set to 26061005; 27532257 Phenotypes for gene: ACTC1 were set to Cardiomyopathy, hypertrophic, 11 (612098); Left ventricular noncompaction 4 (613424); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, dilated, 1R; Atrial septal defect 5 (612794)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0	ABCC9	Ellen McDonagh gene: ABCC9 was added gene: ABCC9 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABCC9 were set to 15034580; 27532257 Phenotypes for gene: ABCC9 were set to Cardiomyopathy, dilated, 1O (608569); Dilated Cardiomyopathy, Dominant; Cardiomyopathy, dilated, 1O; Atrial fibrillation, familial, 12 (614050)
08 Mar 2019	Dilated and arrhythmogenic cardiomyopathy v0.0		Ellen McDonagh Added panel Dilated cardiomyopathy - adult and teen