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| 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 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) |
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| 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 v0.38 | 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 v0.30 | NKX2-5 | Ivone Leong reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 v0.27 | 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 v0.18 | 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 v0.17 | 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 v0.16 | 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 v0.15 | 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 |
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| 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 v0.13 | 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 |
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