Activity

Filter

Cancel
Date Panel Item Activity
239 actions
Progressive cardiac conduction disease v2.6 SCN1B Arina Puzriakova Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific, OMIM:612838 to Cardiac conduction defect, nonspecific, OMIM:612838; Brugada syndrome 5, OMIM:612838; Atrial fibrillation, familial, 13, OMIM:615377
Progressive cardiac conduction disease v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2023-03-22
Progressive cardiac conduction disease v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-11-30
Progressive cardiac conduction disease v2.0 Catherine Snow promoted panel to version 2.0
Progressive cardiac conduction disease v1.37 TBX3 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Ulnar-mammary syndrome 181450
Progressive cardiac conduction disease v1.37 TBX3 Ivone Leong Phenotypes for gene: TBX3 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.36 TBX3 Ivone Leong Publications for gene: TBX3 were set to
Progressive cardiac conduction disease v1.35 KCNK17 Ivone Leong Phenotypes for gene: KCNK17 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.34 KCNK17 Ivone Leong Publications for gene: KCNK17 were set to
Progressive cardiac conduction disease v1.33 GJA5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 11 614049; Atrial standstill, digenic (GJA5/SCN5A) 108770
Progressive cardiac conduction disease v1.33 GJA5 Ivone Leong Phenotypes for gene: GJA5 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.32 GJA5 Ivone Leong Publications for gene: GJA5 were set to
Progressive cardiac conduction disease v1.31 FLNC Ivone Leong Phenotypes for gene: FLNC were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.30 ANK2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiac arrhythmia, ankyrin-B-related 600919; Long QT syndrome 4 600919
Progressive cardiac conduction disease v1.30 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.29 ANK2 Ivone Leong Publications for gene: ANK2 were set to
Progressive cardiac conduction disease v1.28 ACTN2 Ivone Leong Phenotypes for gene: ACTN2 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.27 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559 to Progressive familial heart block, type IB, OMIM:604559
Progressive cardiac conduction disease v1.26 TRPM4 Ivone Leong Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725; 29748318; 30021168
Progressive cardiac conduction disease v1.25 TBX5 Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome 142900 to Holt-Oram syndrome, OMIM:142900
Progressive cardiac conduction disease v1.24 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific 612838 to Cardiac conduction defect, nonspecific, OMIM:612838
Progressive cardiac conduction disease v1.23 CLCA2 Ivone Leong Phenotypes for gene: CLCA2 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.22 TTR Ivone Leong Phenotypes for gene: TTR were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.21 TNNI3K Ivone Leong Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy 616117 to Cardiac conduction disease with or without dilated cardiomyopathy, OMIM:616117
Progressive cardiac conduction disease v1.20 TNNI3K Ivone Leong Publications for gene: TNNI3K were set to 24925317; 25791106; 29355681
Progressive cardiac conduction disease v1.19 SCN5A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with BUNDLE BRANCH BLOCK, Lenegre-Lev disease, CARDIAC CONDUCTION DEFECT, PROGRESSIVE
Progressive cardiac conduction disease v1.19 SCN5A Ivone Leong Phenotypes for gene: SCN5A were changed from BUNDLE BRANCH BLOCK; HEART BLOCK, PROGRESSIVE; Lenegre-Lev disease; Heart block, progressive, type IA; CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PROGRESSIVE FAMILIAL HEART BLOCK (113900) to Heart block, progressive, OMIM:113900; Heart block, progressive, type IA, OMIM:113900
Progressive cardiac conduction disease v1.18 SCN5A Ivone Leong Publications for gene: SCN5A were set to
Progressive cardiac conduction disease v1.17 PRKAG2 Ivone Leong Phenotypes for gene: PRKAG2 were changed from Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects to Wolff-Parkinson-White syndrome, OMIM:194200
Progressive cardiac conduction disease v1.16 PRKAG2 Ivone Leong Publications for gene: PRKAG2 were set to
Progressive cardiac conduction disease v1.15 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from Atrial septal defect 7, with or without AV conduction defects 108900 to Atrial septal defect 7, with or without AV conduction defects OMIM:108900
Progressive cardiac conduction disease v1.14 DES Ivone Leong Publications for gene: DES were set to
Progressive cardiac conduction disease v1.13 LMNA Ivone Leong Publications for gene: LMNA were set to
Progressive cardiac conduction disease v1.12 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from Laminopathy-associated AV conduction block to Laminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Progressive cardiac conduction disease v1.11 HCN4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Brugada syndrome 8 613123
Progressive cardiac conduction disease v1.11 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from Brugada syndrome 8 613123; Sick sinus syndrome 2 163800 to Sick sinus syndrome 2, OMIM:163800
Progressive cardiac conduction disease v1.10 GLA Ivone Leong Phenotypes for gene: GLA were changed from Fabry disease, cardiac variant, 301500 to Fabry disease, cardiac variant, OMIM:301500
Progressive cardiac conduction disease v1.9 EMD Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300
Progressive cardiac conduction disease v1.9 EMD Ivone Leong Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300 to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.8 EMD Ivone Leong Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked 310300 to Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300
Progressive cardiac conduction disease v1.7 DES Ivone Leong Phenotypes for gene: DES were changed from Desminopathy-associated AV conduction block to Desminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Progressive cardiac conduction disease v1.6 Ivone Leong Panel version has been signed off
Progressive cardiac conduction disease v1.3 Catherine Snow Panel version has been signed off
Progressive cardiac conduction disease v1.2 Catherine Snow Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Progressive cardiac conduction disease v1.1 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Progressive cardiac conduction disease v1.0 Ivone Leong promoted panel to version 1.0
Progressive cardiac conduction disease v0.48 Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Progressive cardiac conduction disease v0.47 EMD Ivone Leong Source Expert Review Green was added to EMD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 NKX2-5 Ivone Leong Source Expert Review Green was added to NKX2-5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 TTR Ivone Leong Source Expert Review Green was added to TTR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 GLA Ivone Leong Source Expert Review Green was added to GLA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 LAMP2 Ivone Leong Source Expert Review Green was added to LAMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 HCN4 Ivone Leong Source Expert Review Green was added to HCN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.46 EMD Kate Thomson reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 NKX2-5 Kate Thomson reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 TTR Kate Thomson reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 GLA Kate Thomson reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 LAMP2 Kate Thomson reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 HCN4 Kate Thomson reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.45 Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel
Progressive cardiac conduction disease v0.44 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from PROGRESSIVE FAMILIAL HEART BLOCK, to Progressive familial heart block, type IB 604559
Progressive cardiac conduction disease v0.43 TRPM4 Ivone Leong Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725
Progressive cardiac conduction disease v0.42 TBX5 Ivone Leong Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome 142900
Progressive cardiac conduction disease v0.41 TBX5 Ivone Leong Publications for gene: TBX5 were set to
Progressive cardiac conduction disease v0.40 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from to Cardiac conduction defect, nonspecific 612838
Progressive cardiac conduction disease v0.39 SCN1B Ivone Leong Publications for gene: SCN1B were set to
Progressive cardiac conduction disease v0.38 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from to Atrial septal defect 7, with or without AV conduction defects 108900
Progressive cardiac conduction disease v0.37 NKX2-5 Ivone Leong Publications for gene: NKX2-5 were set to
Progressive cardiac conduction disease v0.36 LAMP2 Ivone Leong Phenotypes for gene: LAMP2 were changed from to Danon disease, 300257
Progressive cardiac conduction disease v0.35 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from to Brugada syndrome 8 613123; Sick sinus syndrome 2 163800
Progressive cardiac conduction disease v0.34 HCN4 Ivone Leong Publications for gene: HCN4 were set to
Progressive cardiac conduction disease v0.33 GLA Ivone Leong Phenotypes for gene: GLA were changed from to Fabry disease, cardiac variant, 301500
Progressive cardiac conduction disease v0.32 EMD Ivone Leong Phenotypes for gene: EMD were changed from to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Progressive cardiac conduction disease v0.31 EMD Ivone Leong Publications for gene: EMD were set to
Progressive cardiac conduction disease v0.30 TTR Ivone Leong reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TRPM4 Ivone Leong reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TNNI3K Ivone Leong reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TBX5 Ivone Leong reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TBX3 Ivone Leong reviewed gene: TBX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 SCN1B Ivone Leong reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 PRKAG2 Ivone Leong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 NKX2-5 Ivone Leong reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 KCNK17 Ivone Leong reviewed gene: KCNK17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 HCN4 Ivone Leong reviewed gene: HCN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 GLA Ivone Leong reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 GJA5 Ivone Leong reviewed gene: GJA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 FLNC Ivone Leong reviewed gene: FLNC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 EMD Ivone Leong reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 DES Ivone Leong reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 CLCA2 Ivone Leong reviewed gene: CLCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 ANK2 Ivone Leong reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.29 FLNC Ivone Leong gene: FLNC was added
gene: FLNC was added to Progressive cardiac conduction disease. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 ACTN2 Ivone Leong gene: ACTN2 was added
gene: ACTN2 was added to Progressive cardiac conduction disease. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 CLCA2 Ivone Leong gene: CLCA2 was added
gene: CLCA2 was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CLCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 SCN1B Ivone Leong Source Expert Review Amber was added to SCN1B.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Progressive cardiac conduction disease v0.29 TTR Ivone Leong gene: TTR was added
gene: TTR was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 GLA Ivone Leong gene: GLA was added
gene: GLA was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Progressive cardiac conduction disease v0.29 LAMP2 Ivone Leong gene: LAMP2 was added
gene: LAMP2 was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
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)
Progressive cardiac conduction disease v0.29 DES Ivone Leong Source Expert Review Green was added to DES.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.29 PRKAG2 Ivone Leong Source Expert Review Green was added to PRKAG2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.29 LMNA Ivone Leong Source Expert Review Green was added to LMNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.29 SCN5A Ivone Leong Source Expert Review Green was added to SCN5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.28 KCNK17 James Eden reviewed gene: KCNK17: Rating: RED; Mode of pathogenicity: None; Publications: 24972929; Phenotypes: ; Mode of inheritance: Unknown
Progressive cardiac conduction disease v0.28 ANK2 James Eden edited their review of gene: ANK2: Changed rating: RED; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 ANK2 James Eden changed review comment from: Little literature associating this gene with conduction disease in particular.; to: Little literature associating this gene with conduction disease in particular.
Progressive cardiac conduction disease v0.28 ANK2 James Eden reviewed gene: ANK2: Rating: ; Mode of pathogenicity: None; Publications: 30929919; Phenotypes: Cardiac arrhythmia, ankyrin-B-related 600919, Long QT syndrome 4 600919; Mode of inheritance: None
Progressive cardiac conduction disease v0.28 GJA5 James Eden reviewed gene: GJA5: Rating: RED; Mode of pathogenicity: None; Publications: 22247482; Phenotypes: Atrial fibrillation, familial, 11 614049, Atrial standstill, digenic (GJA5/SCN5A) 108770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 TBX3 James Eden reviewed gene: TBX3: Rating: RED; Mode of pathogenicity: None; Publications: 30820409; Phenotypes: Ulnar-mammary syndrome 181450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 PRKAG2 James Eden reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26729852, 12015471; Phenotypes: Cardiomyopathy, hypertrophic 6 600858, Glycogen storage disease of heart, lethal congenital 261740, Wolff-Parkinson-White syndrome 194200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Progressive cardiac conduction disease v0.28 TNNI3K James Eden reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: None; Publications: 25791106, 24925317, 30010057; Phenotypes: Cardiac conduction disease with or without dilated cardiomyopathy 616117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 TNNI3K Rebecca Whittington changed review comment from: OMIM: cardiac conduction with/without DCM. A number of families reported one patient at 3.5years. HGMD: Four variants missense and one splice. Conduction defects appear to be presenting feature.; to: OMIM: cardiac conduction with/without DCM. A number of families reported one patient at 3.5years. HGMD: Four variants missense and one splice. Four literature reports, with reasonable segregation suggested: Fan 2018 (PMID 29355681); Podliesna 2019; Xi 2015 (PMID 25791106); Theis 2014 (PMID: 24925317). Conduction defects appear to be presenting feature.
Progressive cardiac conduction disease v0.28 TNNI3K Rebecca Whittington reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac conduction disease with or without dilated cardiomyopathy 616117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 TBX5 James Eden reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29755943; Phenotypes: Holt-Oram syndrome 142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 SCN1B James Eden reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 18464934; Phenotypes: Cardiac conduction defect, nonspecific 612838; Mode of inheritance: Unknown
Progressive cardiac conduction disease v0.28 NKX2-5 James Eden reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: None; Publications: 28259982, 15109497; Phenotypes: Atrial septal defect 7, with or without AV conduction defects 108900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 EMD James Eden reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: None; Publications: 29349559; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Progressive cardiac conduction disease v0.28 DES James Eden changed review comment from: No association with conduction disease on OMIM but three missense variants have been associated with cardiomyopathy with atrioventricular block in the literature: c.46C>T p.(Arg16Cys), c.1237G>A p.(Glu413Lys), c.1358C>T p.(Thr453Ile).; to: No association with conduction disease on OMIM but three missense variants have been associated with cardiomyopathy with atrioventricular block in HGMD: c.46C>T p.(Arg16Cys), c.1237G>A p.(Glu413Lys), c.1358C>T p.(Thr453Ile).
Progressive cardiac conduction disease v0.28 DES James Eden reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: None; Publications: 16376610, 16890305; Phenotypes: Cardiomyopathy, dilated, 1I 604765; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 TRPM4 James Eden reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29568272, 29748318, 30021168, 20562447; Phenotypes: Progressive familial heart block, type IB 604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 SCN5A James Eden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11804990, 16643399, 15466643, 15372490; Phenotypes: Heart block, nonprogressive 113900, Sick sinus syndrome 1 608567; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 LMNA James Eden reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29095976, 23582089; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 HCN4 James Eden reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19796353, 16407510, 12750403, 17646576; Phenotypes: Brugada syndrome 8 613123, Sick sinus syndrome 2 163800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 DES Matthew Edwards reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Progressive cardiac conduction disease v0.28 TBX5 Matthew Edwards reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Progressive cardiac conduction disease v0.28 NKX2-5 Matthew Edwards changed review comment from: Likely pathogenic variant reported in diagnostic service associated with VSD and arrythmia. Good evidence in literature; to: Likely pathogenic variant reported in diagnostic service associated with VSD and arrhythmia. Good evidence in literature
Progressive cardiac conduction disease v0.28 PRKAG2 Matthew Edwards reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26085771; Phenotypes: OMIM 600858 Cardiomyopathy, hypertrophic 6, 194200 Wolff-Parkinson-White syndrome; Mode of inheritance: None; Current diagnostic: yes
Progressive cardiac conduction disease v0.28 NKX2-5 Matthew Edwards reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Progressive cardiac conduction disease v0.28 TRPM4 Matthew Edwards reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Progressive cardiac conduction disease v0.28 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Progressive cardiac conduction disease v0.28 SCN1B Matthew Edwards reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 18464934, 28878239, 25426816; Phenotypes: ; Mode of inheritance: None
Progressive cardiac conduction disease v0.28 LMNA Matthew Edwards reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18035086, 27884249; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Progressive cardiac conduction disease v0.28 Ivone Leong List of related panels changed from to R328
Progressive cardiac conduction disease v0.27 NKX2-5 Ivone Leong Classified gene: NKX2-5 as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.27 NKX2-5 Ivone Leong Gene: nkx2-5 has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.26 TBX3 Ivone Leong Classified gene: TBX3 as Red List (low evidence)
Progressive cardiac conduction disease v0.26 TBX3 Ivone Leong Gene: tbx3 has been classified as Red List (Low Evidence).
Progressive cardiac conduction disease v0.25 TBX3 Ivone Leong Classified gene: TBX3 as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.25 TBX3 Ivone Leong Gene: tbx3 has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.24 TBX5 Ivone Leong Classified gene: TBX5 as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.24 TBX5 Ivone Leong Gene: tbx5 has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.23 EMD Ivone Leong Classified gene: EMD as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.23 EMD Ivone Leong Gene: emd has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.22 DES Ivone Leong Classified gene: DES as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.22 DES Ivone Leong Gene: des has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.21 LMNA Ivone Leong Classified gene: LMNA as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.21 LMNA Ivone Leong Gene: lmna has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.20 HCN4 Ivone Leong Classified gene: HCN4 as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.20 HCN4 Ivone Leong Gene: hcn4 has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.18 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (600919), Long QT syndrome 4 (600919)
Progressive cardiac conduction disease v0.18 GJA5 Rebecca Whittington commented on gene: GJA5: Atrial fibrillation, familial, 11 (614049), Atrial standstill, digenic (GJA5/SCN5A) (108770)
Progressive cardiac conduction disease v0.18 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Atrial septal defect 7, with or without AV conduction defects (108900), Conotruncal heart malformations, variable (217095), Hypoplastic left heart (syndrome 2 (614435), Hypothyroidism, congenital nongoitrous, 5 (225250), Tetralogy of Fallot (187500), Ventricular septal defect 3 (614432)
Progressive cardiac conduction disease v0.18 TBX3 Rebecca Whittington commented on gene: TBX3: Ulnar-mammary syndrome (181450)
Progressive cardiac conduction disease v0.18 TBX5 Rebecca Whittington commented on gene: TBX5: Holt-Oram syndrome (142900)
Progressive cardiac conduction disease v0.18 EMD Rebecca Whittington commented on gene: EMD: Emery-Dreifuss muscular dystrophy 1, X-linked (OMIM 310300)
Progressive cardiac conduction disease v0.18 DES Rebecca Whittington commented on gene: DES: Myopathy, myofibrillar, 1 (601419); Cardiomyopathy, dilated, 1I (604765)
Progressive cardiac conduction disease v0.18 LMNA Rebecca Whittington commented on gene: LMNA: 115200 Cardiomyopathy, dilated, 1A
Progressive cardiac conduction disease v0.18 HCN4 Rebecca Whittington commented on gene: HCN4: Sick sinus syndrome 2 (163800)
Progressive cardiac conduction disease v0.18 TRPM4 Rebecca Whittington commented on gene: TRPM4: Progressive familial heart block, type IB (604559)
Progressive cardiac conduction disease v0.18 SCN5A Rebecca Whittington commented on gene: SCN5A: Heart block, nonprogressive (113900); Heart block, progressive, type IA (OMIM 113900)
Progressive cardiac conduction disease v0.18 SCN1B Rebecca Whittington commented on gene: SCN1B: Cardiac conduction defect, nonspecific (612838)
Progressive cardiac conduction disease v0.18 KCNK17 Rebecca Whittington commented on gene: KCNK17: Potassium channel, subfamily K, Member 17 (no MIM)
Progressive cardiac conduction disease v0.17 ANK2 Rebecca Whittington commented on gene: ANK2: Can be associated with Bradycardia. 27785597 - 1 report on HGMD
Progressive cardiac conduction disease v0.17 GJA5 Rebecca Whittington commented on gene: GJA5: Pubmed: 25426816. Connexin. Involved in the normal propagation of the electrical impulse in the specialized cardiac conduction system. 1 family with variant and familial heart block.
Progressive cardiac conduction disease v0.17 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 TBX3 Rebecca Whittington commented on gene: TBX3: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 TBX5 Rebecca Whittington commented on gene: TBX5: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 EMD Rebecca Whittington commented on gene: EMD: As with LMNA - reports of individuals with a EMD variant who had a conduction defect as an isolated finding at presentation.
Progressive cardiac conduction disease v0.17 DES Rebecca Whittington commented on gene: DES: As with LMNA - reports of individuals with a DES variant who had a conduction defect as an isolated finding at presentation.
Progressive cardiac conduction disease v0.17 LMNA Rebecca Whittington commented on gene: LMNA: PMID: 27884249; 23912926: reports of individuals with a LMNA variant who had a conduction defect as an isolated finding. Cardiomyopathy phenotype developed late in some (few) relatives as a later feature.
Progressive cardiac conduction disease v0.17 HCN4 Rebecca Whittington commented on gene: HCN4: Atrial fibrillation, Bradycardia & left ventricular noncompaction cardiomyopathy; Sick Sinus Syndrome on HGMD, numerous reports. Pubmed - 28104484
Progressive cardiac conduction disease v0.17 TRPM4 Rebecca Whittington commented on gene: TRPM4: In cellular expression systems, mutant TRPM4 channels produce a larger current than wt (GoF). 4 families identified. Hypothesised GoF mutant channels lead to cell membrane depolarisation in the conduction system, therefore reducing number of Na channels and resulting in conduction abnormality. Functional experiments expressing these three mutant variants of TRPM4 suggested a similar gain-of-function phenomenon related to altered deSUMOylation 21887725. 20562447
Progressive cardiac conduction disease v0.17 SCN5A Rebecca Whittington commented on gene: SCN5A: Pubmed: 25426816. Main gene involved in PCCD. at least 16 distinct mutations in SCN5A have been found to cause conduction alterations and block in patients and their families. The vast majority of these mutations, when functionally characterized, reduced the sodium current, thereby leading to a loss of function consistent with the slowed cardiac conduction observed in patients.
Progressive cardiac conduction disease v0.17 SCN1B Rebecca Whittington commented on gene: SCN1B: Pubmed: 25426816. Encodes beta1 subunit of Nav1.5. Variants identified in families with conduction alterations (and some cases Brugada). All variants found to decrease Nav1.5 - mediated channel in cellular expression system compared to controls. HGMD - 2 DM variants associated with PCCD on HGMD, however 1 reclassified as a VUS. Functional studies 28878239.
Progressive cardiac conduction disease v0.17 KCNK17 Rebecca Whittington commented on gene: KCNK17: PCCD patient with idiopathic ventricular fibrillation, whole exome sequencing identified a missense mutation G88R, in the gene KCNK17, which codes for the potassium channel TASK-4. This mutation led to a gain of function of the TASK-4-mediated current and may, similarly to the gain-of-function mechanisms proposed for TRPM4 24972929
Progressive cardiac conduction disease v0.16 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 GJA5 Rebecca Whittington reviewed gene: GJA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 NKX2-5 Rebecca Whittington reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 TBX3 Rebecca Whittington reviewed gene: TBX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 TBX5 Rebecca Whittington reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 EMD Rebecca Whittington reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 DES Rebecca Whittington reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 HCN4 Rebecca Whittington reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 TRPM4 Rebecca Whittington reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 SCN1B Rebecca Whittington reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 KCNK17 Rebecca Whittington reviewed gene: KCNK17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Progressive cardiac conduction disease v0.15 KCNK17 Ellen McDonagh gene: KCNK17 was added
gene: KCNK17 was added to Progressive cardiac conduction disease. Sources: South West GLH
Mode of inheritance for gene: KCNK17 was set to Unknown
Progressive cardiac conduction disease v0.15 ANK2 Ellen McDonagh gene: ANK2 was added
gene: ANK2 was added to Progressive cardiac conduction disease. Sources: South West GLH
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.15 GJA5 Ellen McDonagh gene: GJA5 was added
gene: GJA5 was added to Progressive cardiac conduction disease. Sources: South West GLH
Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.15 NKX2-5 Ellen McDonagh Source South West GLH was added to NKX2-5.
Mode of inheritance for gene NKX2-5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.15 TBX3 Ellen McDonagh gene: TBX3 was added
gene: TBX3 was added to Progressive cardiac conduction disease. Sources: South West GLH
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.15 TBX5 Ellen McDonagh Source South West GLH was added to TBX5.
Mode of inheritance for gene TBX5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.15 EMD Ellen McDonagh gene: EMD was added
gene: EMD was added to Progressive cardiac conduction disease. Sources: South West GLH
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Progressive cardiac conduction disease v0.15 DES Ellen McDonagh Source South West GLH was added to DES.
Mode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Progressive cardiac conduction disease v0.15 LMNA Ellen McDonagh Source South West GLH was added to LMNA.
Progressive cardiac conduction disease v0.15 HCN4 Ellen McDonagh gene: HCN4 was added
gene: HCN4 was added to Progressive cardiac conduction disease. Sources: South West GLH
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.15 TRPM4 Ellen McDonagh Source South West GLH was added to TRPM4.
Progressive cardiac conduction disease v0.15 SCN5A Ellen McDonagh Source South West GLH was added to SCN5A.
Progressive cardiac conduction disease v0.15 SCN1B Ellen McDonagh Source South West GLH was added to SCN1B.
Mode of inheritance for gene SCN1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.14 PRKAG2 Ellen McDonagh reviewed gene: PRKAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.14 NKX2-5 Ellen McDonagh reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.14 TBX5 Ellen McDonagh reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.14 LMNA Ellen McDonagh reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.14 TRPM4 Ellen McDonagh edited their review of gene: TRPM4: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Progressive cardiac conduction disease v0.14 SCN5A Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Progressive cardiac conduction disease v0.14 SCN1B Ellen McDonagh reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.13 PRKAG2 Ellen McDonagh Source London South GLH was added to PRKAG2.
Progressive cardiac conduction disease v0.13 NKX2-5 Ellen McDonagh gene: NKX2-5 was added
gene: NKX2-5 was added to Progressive cardiac conduction disease. Sources: London South GLH
Mode of inheritance for gene: NKX2-5 was set to
Progressive cardiac conduction disease v0.13 TBX5 Ellen McDonagh gene: TBX5 was added
gene: TBX5 was added to Progressive cardiac conduction disease. Sources: London South GLH
Mode of inheritance for gene: TBX5 was set to
Progressive cardiac conduction disease v0.13 LMNA Ellen McDonagh Source London South GLH was added to LMNA.
Progressive cardiac conduction disease v0.13 TRPM4 Ellen McDonagh Source London South GLH was added to TRPM4.
Progressive cardiac conduction disease v0.13 SCN5A Ellen McDonagh Source London South GLH was added to SCN5A.
Progressive cardiac conduction disease v0.13 SCN1B Ellen McDonagh gene: SCN1B was added
gene: SCN1B was added to Progressive cardiac conduction disease. Sources: London South GLH
Mode of inheritance for gene: SCN1B was set to
Progressive cardiac conduction disease v0.12 SCN5A Ellen McDonagh Classified gene: SCN5A as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.12 SCN5A Ellen McDonagh Added comment: Comment on list classification: Evidence (publications) required to promoted this gene to Green.
Progressive cardiac conduction disease v0.12 SCN5A Ellen McDonagh Gene: scn5a has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.11 TRPM4 Ellen McDonagh Classified gene: TRPM4 as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.11 TRPM4 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from the Oxford Medical Genetics Laboratory, provided by Kate McGuire.
Progressive cardiac conduction disease v0.11 TRPM4 Ellen McDonagh Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.10 SCN5A Ellen McDonagh Classified gene: SCN5A as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.10 SCN5A Ellen McDonagh Gene: scn5a has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.9 TRPM4 Oxford Medical Genetics Laboratory reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 19726882, 20562447, 21887725; Phenotypes: PROGRESSIVE FAMILIAL HEART BLOCK,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.9 SCN5A Oxford Medical Genetics Laboratory reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: PROGRESSIVE FAMILIAL HEART BLOCK (113900), CARDIAC CONDUCTION DEFECT, PROGRESSIVE, BUNDLE BRANCH BLOCK, HEART BLOCK, PROGRESSIVE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.8 TRPM4 Ellen McDonagh gene: TRPM4 was added
gene: TRPM4 was added to Progressive cardiac conduction disease. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725
Phenotypes for gene: TRPM4 were set to PROGRESSIVE FAMILIAL HEART BLOCK,
Progressive cardiac conduction disease v0.8 SCN5A Ellen McDonagh Source Wessex and West Midlands GLH was added to SCN5A.
Added phenotypes CARDIAC CONDUCTION DEFECT, PROGRESSIVE; HEART BLOCK, PROGRESSIVE; BUNDLE BRANCH BLOCK; PROGRESSIVE FAMILIAL HEART BLOCK (113900) for gene: SCN5A
Progressive cardiac conduction disease v0.7 SCN5A Anna de Burca gene: SCN5A was added
gene: SCN5A was added to Progressive cardiac conduction disease. Sources: Expert list
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN5A were set to Heart block, progressive, type IA; Lenegre-Lev disease
Review for gene: SCN5A was set to AMBER
Added comment: Sources: Expert list
Progressive cardiac conduction disease v0.6 PRKAG2 Anna de Burca gene: PRKAG2 was added
gene: PRKAG2 was added to Progressive cardiac conduction disease. Sources: Expert list
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects
Review for gene: PRKAG2 was set to AMBER
Added comment: Sources: Expert list
Progressive cardiac conduction disease v0.5 DES Anna de Burca gene: DES was added
gene: DES was added to Progressive cardiac conduction disease. Sources: Expert list
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DES were set to Desminopathy-associated AV conduction block
Review for gene: DES was set to AMBER
Added comment: Sources: Expert list
Progressive cardiac conduction disease v0.4 LMNA Anna de Burca gene: LMNA was added
gene: LMNA was added to Progressive cardiac conduction disease. Sources: Expert list
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNA were set to Laminopathy-associated AV conduction block
Review for gene: LMNA was set to AMBER
Added comment: Sources: Expert list
Progressive cardiac conduction disease v0.3 TNNI3K Eleanor Williams Classified gene: TNNI3K as Green List (high evidence)
Progressive cardiac conduction disease v0.3 TNNI3K Eleanor Williams Added comment: Comment on list classification: 3 unrelated cases of Cardiac conduction disease with or without dilated cardiomyopathy with plausible disease causing variants in the TNNI3K gene.
Progressive cardiac conduction disease v0.3 TNNI3K Eleanor Williams Gene: tnni3k has been classified as Green List (High Evidence).
Progressive cardiac conduction disease v0.2 TNNI3K Eleanor Williams gene: TNNI3K was added
gene: TNNI3K was added to Progressive cardiac conduction disease. Sources: Literature
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNI3K were set to 24925317; 25791106; 29355681
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Review for gene: TNNI3K was set to GREEN
Added comment: TNNI3K associated with Cardiac conduction disease with or without dilated cardiomyopathy in OMIM.

3 cases reported of families with cardiac conduction disease with or without dilated cardiomyopathy (PMID: 24925317 (Theis et al 2014), 25791106 (Xi et al 2015), 29355681 (Fan et al 2018)). Variants segregate within the 3 families. 3 different heterozygous variants found; G526D, T539A and a splice site variant (c.333 + 2 T > C) which may result in a premature stop codon.

Has also been added to the Cardiac arrhythmias GMS Rare Disease Virtual panel
Sources: Literature
Progressive cardiac conduction disease v0.0 Ellen McDonagh Added Panel Progressive cardiac conduction disease
Set panel types to: GMS Rare Disease