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Cardiac conduction disease v1.0 Bryony Thompson promoted panel to version 1.0
Cardiac conduction disease v0.38 Bryony Thompson Panel status changed from internal to public
Cardiac conduction disease v0.36 GNB2 Bryony Thompson Deleted their review
Cardiac conduction disease v0.36 GNB2 Bryony Thompson gene: GNB2 was added
gene: GNB2 was added to Cardiac conduction disease. Sources: Literature
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 28219978
Phenotypes for gene: GNB2 were set to Sick sinus syndrome 4, MIM# 619464
Review for gene: GNB2 was set to RED
Added comment: Sources: Literature
Cardiac conduction disease v0.35 GJA5 Bryony Thompson Marked gene: GJA5 as ready
Cardiac conduction disease v0.35 GJA5 Bryony Thompson Gene: gja5 has been classified as Amber List (Moderate Evidence).
Cardiac conduction disease v0.35 GJA5 Bryony Thompson Classified gene: GJA5 as Amber List (moderate evidence)
Cardiac conduction disease v0.35 GJA5 Bryony Thompson Gene: gja5 has been classified as Amber List (Moderate Evidence).
Cardiac conduction disease v0.34 GJA5 Bryony Thompson gene: GJA5 was added
gene: GJA5 was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA5 were set to 9501069; 10086977; 22247482; 36352534
Phenotypes for gene: GJA5 were set to heart conduction disease MONDO:0000992
Review for gene: GJA5 was set to AMBER
Added comment: PMID: 9501069, 10086977 - null mouse model with cardiac conduction abnormalities characteristic of first-degree atrioventricular block with associated bundle branch block
PMID: 22247482 - Q58L (absent from gnomAD v4) identified in a proband with progressive familial heart block, segregated to affected sibling and was likely present in mother that died of sudden cardiac death (the variant was absent from the probands father and maternal grandparents, suggesting the variant is de novo in the probands mother but no DNA was available for testing). In vitro functional assays showed the variant (Cx40-Q58L) impairs gap junction formation at cell-cell interfaces.
PMID: 36352534 - a VUS p.(Arg316His) was identified in a case with idiopathic atrioventricular conduction disease. 49 hets in gnomAD v4.
Sources: NHS GMS
Cardiac conduction disease v0.33 TRPM4 Bryony Thompson Marked gene: TRPM4 as ready
Cardiac conduction disease v0.33 TRPM4 Bryony Thompson Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Cardiac conduction disease v0.33 TRPM4 Bryony Thompson Classified gene: TRPM4 as Amber List (moderate evidence)
Cardiac conduction disease v0.33 TRPM4 Bryony Thompson Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Cardiac conduction disease v0.32 TRPM4 Bryony Thompson gene: TRPM4 was added
gene: TRPM4 was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM4 were set to 19726882; 26820365; 21887725; 32681584; 20562447; 25531103; 27207958; 29568272; 29748318; 36352534; 35205305
Phenotypes for gene: TRPM4 were set to progressive familial heart block type IB MONDO:0011474
Mode of pathogenicity for gene: TRPM4 was set to Other
Review for gene: TRPM4 was set to AMBER
Added comment: A lot of the originally reported variants are more common in gnomAD than is expected for a dominant condition. However, there are at least 2 families that have decent segregation evidence and that suggest gain of function is the mechanism of disease. Loss of function variants are common in gnomAD.
Publications that contribute to gene-disease association:
PMID: 19726882 - linkage analysis in a large South African Afrikaner family with progressive familial heart block identified linkage to chromosomal locus 19q13.3. p.E7K was found to segregate with PFHB in the family. The variant was found to lead to a gain of function. The variant is rare in gnomAD v4 - 2 hets.
PMID: 26820365 - identified 13 “rare” TRPM4 variants in 95 unrelated patients with progressive cardiac conduction disease (PCCD). Some of the variants are a bit too common in gnomAD to be associated with dominant disease. One of the variants (p.Ile376Thr - 3 hets in gnomAD v4) segregated with PCCD in a large French 4-generation pedigree. TRPM4-p.I376T results in an increased current density in patch-clamp assays & augmented TRPM4 channel expression at the cell surface.
PMID: 21887725 - 8 “rare” TRPM4 variants identified in 160 cases with cardiac conduction disturbances. 3 of the variants had some supporting segregation evidence (Y790H - 3 segs, P970S - 1 seg, K914R - 1 seg)
PMID: 32681584 - in vitro functional assays on K914R which demonstrate a gain of function
Publications with uncertainty:
PMID: 20562447 - 3 families with dominant isolated cardiac conduction blocks were used for linkage analysis and a genomic interval on the long arm of chromosome 19 in an interval of ~300 genes. Screened 12 genes. TRPM4 p.Ala432Thr (L1 family), p.Arg164Trp (F1 family), p.Gly844Asp (F2 family). Ala432Thr and Gly844Asp are too common in gnomAD for a Mendelian AD disease (see below). Incomplete penetrance for p.Arg164Trp in family F1. All 3 variants increased current density in patch-clamp assays compared to WT (p<0.05).
PMID: 25531103 - null mouse model has cardiac hypertrophy and electrophysiological alterations
PMID: 27207958 - “rare” missense variants identified in children with atrioventricular block. Asp198Gly (2 hets in gnomAD v4), Ala432Thr/Gly582Ser present in 2 families (A432T - 558 alleles, 5 homs; G582S - 604 alleles, 7 homs in gnomAD v4) and also carried variants in SCN5 & NKX2.5, Thr677Ile (1 het in gnomAD v4), Val921Ile (101 alleles, 1 hom in gnomAD v4). Ala432Thr/Gly582Ser demonstrated loss of function in patch clamp assay - A432T alone was LoF, while G582S alone was GoF. D198G, T677I, and V921I didn’t alter function in the assays
PMID: 29568272 - p.A101T (3299 alleles, 51 homs), p.Q854R (1610 alleles, 5 homs), p.S1044C (7 hets), p.A101T/P1204L (5013 alleles, 11 homs). In patch-clamp assays, all variants reduced current except Q854R which increased the current (GoF)
PMID: 29748318 - synonymous variant c.858G>A shown to lead to exon 7 skipping, expected to cause loss of function identified in 2 siblings with cardiac conduction defects. It was inherited from apparently unaffected mother
PMID: 36352534, 35205305 - both report TRPM4 c.2351G>A, p.Gly844Asp in association with conduction disease. However, the variant is highly prevalent in gnomAD v4 (2200 alleles, 1 homozygote)
Sources: NHS GMS
Cardiac conduction disease v0.31 TBX5 Bryony Thompson Marked gene: TBX5 as ready
Cardiac conduction disease v0.31 TBX5 Bryony Thompson Gene: tbx5 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.31 TBX5 Bryony Thompson Classified gene: TBX5 as Green List (high evidence)
Cardiac conduction disease v0.31 TBX5 Bryony Thompson Gene: tbx5 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.30 TBX5 Bryony Thompson gene: TBX5 was added
gene: TBX5 was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX5 were set to 20301290
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome MONDO:0007732
Review for gene: TBX5 was set to GREEN
gene: TBX5 was marked as current diagnostic
Added comment: Conduction disease is a characteristic feature of the condition.
Sources: NHS GMS
Cardiac conduction disease v0.29 SCN1B Bryony Thompson Marked gene: SCN1B as ready
Cardiac conduction disease v0.29 SCN1B Bryony Thompson Gene: scn1b has been classified as Amber List (Moderate Evidence).
Cardiac conduction disease v0.29 SCN1B Bryony Thompson Classified gene: SCN1B as Amber List (moderate evidence)
Cardiac conduction disease v0.29 SCN1B Bryony Thompson Gene: scn1b has been classified as Amber List (Moderate Evidence).
Cardiac conduction disease v0.28 SCN1B Bryony Thompson gene: SCN1B was added
gene: SCN1B was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1B were set to 19808477; 18464934; 28878239; 29758173
Phenotypes for gene: SCN1B were set to Heart conduction disease MONDO:0000992
Review for gene: SCN1B was set to AMBER
Added comment: This gene is disputed for Brugada syndrome. There is a single family reported with decent segregation evidence of a missense variant (p.Glu87Gln) with conduction disease, and another missense that has been reported in a case with AF, that has been reported as pathogenic for epilepsy.
PMID: 19808477 - R85H (8 hets in gnomAD v4) identified in a case with atrial fibrillation. This variant has also been reported in patients with GEFS and is reported LP/P in ClinVar. D153N (277 hets in gnomAD v4) also identified in a case with AF, but the variant is classified as a VUS.
PMID: 18464934 - Glu87Gln (3 hets in gnomAD v4) identified in a Turkish family with 2 siblings with conduction abnormalities, inherited from mother with no cardiac phenotype (later determined to have clinical atrioventricular nodal reentry tachycardia in PMID: 29758173). c.536G>A Trp179Ter in beta1B transcript (NM_001037.5:c.448+88G>A - 44 hets gnomAD v4) identified in a family with conduction disease (3 affected cases & 1 unaffected individual). c.537G>A p.Trp179Ter (NM_001037.5(SCN1B):c.448+89G>A - 1 het in gnomAD v4) identified in fam 3 - 1 affected case & 1 unaffected individual. Haploinsufficiency is the suggested mechanism of disease supported by electrophysiologic data.
PMID: 28878239 - in vitro functional assays suggesting Glu87Gln reduces sodium channel function.
PMID: 29758173 - study suggesting p.Trp179Ter is not associated with disease, but has updated information for the Turkish family with p.Glu87Gln strengthening the segregation of the variant with conduction disease
Sources: NHS GMS
Cardiac conduction disease v0.27 CLCA2 Bryony Thompson Marked gene: CLCA2 as ready
Cardiac conduction disease v0.27 CLCA2 Bryony Thompson Gene: clca2 has been classified as Amber List (Moderate Evidence).
Cardiac conduction disease v0.27 CLCA2 Bryony Thompson Classified gene: CLCA2 as Amber List (moderate evidence)
Cardiac conduction disease v0.27 CLCA2 Bryony Thompson Gene: clca2 has been classified as Amber List (Moderate Evidence).
Cardiac conduction disease v0.26 CLCA2 Bryony Thompson edited their review of gene: CLCA2: Changed rating: AMBER
Cardiac conduction disease v0.26 CLCA2 Bryony Thompson edited their review of gene: CLCA2: Changed rating: RED
Cardiac conduction disease v0.26 CLCA2 Bryony Thompson gene: CLCA2 was added
gene: CLCA2 was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: CLCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCA2 were set to 31326550
Phenotypes for gene: CLCA2 were set to heart conduction disease MONDO:0000992
Review for gene: CLCA2 was set to AMBER
Added comment: A missense (p.Trp575Cys) segregates with conduction disease in 5 individuals from a large Chinese family. Electrocardiogram monitoring of mice with missense introduced induced mild conduction block and ectopic pacemakers.
Sources: NHS GMS
Cardiac conduction disease v0.25 TTR Bryony Thompson Marked gene: TTR as ready
Cardiac conduction disease v0.25 TTR Bryony Thompson Gene: ttr has been classified as Green List (High Evidence).
Cardiac conduction disease v0.25 TTR Bryony Thompson Classified gene: TTR as Green List (high evidence)
Cardiac conduction disease v0.25 TTR Bryony Thompson Gene: ttr has been classified as Green List (High Evidence).
Cardiac conduction disease v0.24 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 35074177; 39196575
Phenotypes for gene: TTR were set to Hereditary amyloidosis MONDO:0018634
Review for gene: TTR was set to GREEN
gene: TTR was marked as current diagnostic
Added comment: Conduction is a common feature of cardiac amyloidosis
Sources: NHS GMS
Cardiac conduction disease v0.23 TNNI3K Bryony Thompson Marked gene: TNNI3K as ready
Cardiac conduction disease v0.23 TNNI3K Bryony Thompson Gene: tnni3k has been classified as Green List (High Evidence).
Cardiac conduction disease v0.23 TNNI3K Bryony Thompson Classified gene: TNNI3K as Green List (high evidence)
Cardiac conduction disease v0.23 TNNI3K Bryony Thompson Gene: tnni3k has been classified as Green List (High Evidence).
Cardiac conduction disease v0.22 TNNI3K Bryony Thompson gene: TNNI3K was added
gene: TNNI3K was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI3K were set to 25791106; 24925317; 30010057; 29355681
Phenotypes for gene: TNNI3K were set to atrial conduction disease MONDO:0014500
Review for gene: TNNI3K was set to GREEN
gene: TNNI3K was marked as current diagnostic
Added comment: Established gene-disease association
Sources: NHS GMS
Cardiac conduction disease v0.21 PRKAG2 Bryony Thompson Marked gene: PRKAG2 as ready
Cardiac conduction disease v0.21 PRKAG2 Bryony Thompson Gene: prkag2 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.21 PRKAG2 Bryony Thompson Classified gene: PRKAG2 as Green List (high evidence)
Cardiac conduction disease v0.21 PRKAG2 Bryony Thompson Gene: prkag2 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.20 PRKAG2 Bryony Thompson gene: PRKAG2 was added
gene: PRKAG2 was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 26729852; 32646569
Phenotypes for gene: PRKAG2 were set to PRKAG2-related cardiomyopathy MONDO:0800484
Review for gene: PRKAG2 was set to GREEN
gene: PRKAG2 was marked as current diagnostic
Added comment: Conduction disease is a common feature of the condition.
Sources: NHS GMS
Cardiac conduction disease v0.19 NKX2-5 Bryony Thompson Marked gene: NKX2-5 as ready
Cardiac conduction disease v0.19 NKX2-5 Bryony Thompson Gene: nkx2-5 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.19 NKX2-5 Bryony Thompson Classified gene: NKX2-5 as Green List (high evidence)
Cardiac conduction disease v0.19 NKX2-5 Bryony Thompson Gene: nkx2-5 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.18 NKX2-5 Bryony Thompson gene: NKX2-5 was added
gene: NKX2-5 was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-5 were set to 28259982; 15109497; 37697673
Phenotypes for gene: NKX2-5 were set to NKX2.5-related congenital, conduction and myopathic heart disease MONDO:0800441
Review for gene: NKX2-5 was set to GREEN
gene: NKX2-5 was marked as current diagnostic
Added comment: Conduction disease is a feature of the condition.
Sources: NHS GMS
Cardiac conduction disease v0.17 POPDC2 Bryony Thompson Classified gene: POPDC2 as Green List (high evidence)
Cardiac conduction disease v0.17 POPDC2 Bryony Thompson Gene: popdc2 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.16 POPDC2 Bryony Thompson gene: POPDC2 was added
gene: POPDC2 was added to Cardiac conduction disease. Sources: Literature
Mode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POPDC2 were set to 39006410; 32535041
Phenotypes for gene: POPDC2 were set to Heart conduction disease MONDO:0000992
Review for gene: POPDC2 was set to GREEN
Added comment: 4 families with sinus node disease and AV node defects with biallelic variants. Loss of function is the expected mechanism of disease. There is also a single report of monozygotic twins with a heterozygous nonsense variant and conduction disease. However, the more recent study reporting the biallelic association found that none of the familial variants were associated with clinical outcomes in the heterozygous state.
Sources: Literature
Cardiac conduction disease v0.15 LMNA Bryony Thompson Marked gene: LMNA as ready
Cardiac conduction disease v0.15 LMNA Bryony Thompson Gene: lmna has been classified as Green List (High Evidence).
Cardiac conduction disease v0.15 LMNA Bryony Thompson Classified gene: LMNA as Green List (high evidence)
Cardiac conduction disease v0.15 LMNA Bryony Thompson Gene: lmna has been classified as Green List (High Evidence).
Cardiac conduction disease v0.14 LMNA Bryony Thompson gene: LMNA was added
gene: LMNA was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 18035086; 27884249; 20301717
Phenotypes for gene: LMNA were set to atrioventricular block MONDO:0000465
Review for gene: LMNA was set to GREEN
gene: LMNA was marked as current diagnostic
Added comment: AVB and conduction disease are commonly reported as a feature of LMNA-related cardiomyopathy.
Sources: NHS GMS
Cardiac conduction disease v0.13 LAMP2 Bryony Thompson Marked gene: LAMP2 as ready
Cardiac conduction disease v0.13 LAMP2 Bryony Thompson Gene: lamp2 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.13 LAMP2 Bryony Thompson Classified gene: LAMP2 as Green List (high evidence)
Cardiac conduction disease v0.13 LAMP2 Bryony Thompson Gene: lamp2 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.12 LAMP2 Bryony Thompson gene: LAMP2 was added
gene: LAMP2 was added to Cardiac conduction disease. Sources: 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 25228319; 30857840
Phenotypes for gene: LAMP2 were set to Danon disease MONDO:0010281
Review for gene: LAMP2 was set to GREEN
gene: LAMP2 was marked as current diagnostic
Added comment: Cardiac conduction abnormalities are commonly a feature of Danon disease.
Sources: NHS GMS
Cardiac conduction disease v0.11 HCN4 Bryony Thompson Marked gene: HCN4 as ready
Cardiac conduction disease v0.11 HCN4 Bryony Thompson Gene: hcn4 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.11 HCN4 Bryony Thompson Classified gene: HCN4 as Green List (high evidence)
Cardiac conduction disease v0.11 HCN4 Bryony Thompson Gene: hcn4 has been classified as Green List (High Evidence).
Cardiac conduction disease v0.10 HCN4 Bryony Thompson gene: HCN4 was added
gene: HCN4 was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HCN4 were set to 21220308; 15123648; 29447731; 12750403; 16407510; 17646576; 25145518
Phenotypes for gene: HCN4 were set to Sick sinus syndrome MONDO:0001823
Review for gene: HCN4 was set to GREEN
gene: HCN4 was marked as current diagnostic
Added comment: Associated with sick sinus syndrome, which is a heart conduction disease.
Sources: NHS GMS
Cardiac conduction disease v0.9 GLA Bryony Thompson Marked gene: GLA as ready
Cardiac conduction disease v0.9 GLA Bryony Thompson Gene: gla has been classified as Green List (High Evidence).
Cardiac conduction disease v0.9 GLA Bryony Thompson Classified gene: GLA as Green List (high evidence)
Cardiac conduction disease v0.9 GLA Bryony Thompson Gene: gla has been classified as Green List (High Evidence).
Cardiac conduction disease v0.8 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GLA were set to 34067605; 34266644; 31286959; 28668140
Phenotypes for gene: GLA were set to Fabry disease MONDO:0010526
Review for gene: GLA was set to GREEN
gene: GLA was marked as current diagnostic
Added comment: Cardiac conduction disease can be a cardiac feature of Fabry disease.
Sources: NHS GMS
Cardiac conduction disease v0.7 EMD Bryony Thompson changed review comment from: Conduction disease (including LVNC, heart block, artrial standstill) has been reported with and without neuromuscular features in hemizygous males.
Sources: NHS GMS; to: Conduction abnormalities (including LVNC, heart block, artrial standstill) has been reported with and without neuromuscular features in hemizygous males.
Sources: NHS GMS
Cardiac conduction disease v0.7 EMD Bryony Thompson Classified gene: EMD as Green List (high evidence)
Cardiac conduction disease v0.7 EMD Bryony Thompson Gene: emd has been classified as Green List (High Evidence).
Cardiac conduction disease v0.6 EMD Bryony Thompson gene: EMD was added
gene: EMD was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EMD were set to 32755394; 31802929; 11385714
Phenotypes for gene: EMD were set to heart conduction disease MONDO:0000992
Review for gene: EMD was set to GREEN
gene: EMD was marked as current diagnostic
Added comment: Conduction disease (including LVNC, heart block, artrial standstill) has been reported with and without neuromuscular features in hemizygous males.
Sources: NHS GMS
Cardiac conduction disease v0.5 SCN5A Bryony Thompson edited their review of gene: SCN5A: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiac conduction disease v0.5 SCN5A Bryony Thompson Mode of inheritance for gene: SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiac conduction disease v0.4 SCN5A Bryony Thompson Classified gene: SCN5A as Green List (high evidence)
Cardiac conduction disease v0.4 SCN5A Bryony Thompson Gene: scn5a has been classified as Green List (High Evidence).
Cardiac conduction disease v0.3 SCN5A Bryony Thompson gene: SCN5A was added
gene: SCN5A was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to 39134129; 11804990; 16643399; 15466643
Phenotypes for gene: SCN5A were set to progressive familial heart block MONDO:0019490
Review for gene: SCN5A was set to GREEN
gene: SCN5A was marked as current diagnostic
Added comment: Pathogenic SCN5A variants have been associated with cardiac conduction disease alone or in pleiotropic/overlapping cardiac syndromes. In a large study of SCN5A PV carriers 3.5% (6/170) had isolated progressive cardiac conduction disease.
Sources: NHS GMS
Cardiac conduction disease v0.2 DES Bryony Thompson Marked gene: DES as ready
Cardiac conduction disease v0.2 DES Bryony Thompson Gene: des has been classified as Green List (High Evidence).
Cardiac conduction disease v0.2 DES Bryony Thompson Classified gene: DES as Green List (high evidence)
Cardiac conduction disease v0.2 DES Bryony Thompson Gene: des has been classified as Green List (High Evidence).
Cardiac conduction disease v0.1 DES Bryony Thompson gene: DES was added
gene: DES was added to Cardiac conduction disease. Sources: NHS GMS
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DES were set to 39252922; 16376610; 16890305
Phenotypes for gene: DES were set to heart conduction disease MONDO:0000992
Review for gene: DES was set to GREEN
gene: DES was marked as current diagnostic
Added comment: Cardiac conduction disease is a common feature of DES-related cardiomyopathy.
Sources: NHS GMS
Cardiac conduction disease v0.0 Bryony Thompson Added Panel Cardiac conduction disease
Set list of related panels to Cardiac conduction abnormality; HP:0031546
Set panel types to: Victorian Clinical Genetics Services; Royal Melbourne Hospital