Progressive cardiac conduction disease
Gene: TTR
TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 17 panels
2 reviews
Kate Thomson (Oxford University Hospitals Foundation Trust)
Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.46
Ivone Leong (Genomics England Curator)
New gene submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Heart conduction disease, MONDO:0000992
- OMIM
- 176300
- Clinvar variants
- Variants in TTR
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Dilated Cardiomyopathy and conduction defects
- Adult onset leukodystrophy
- Periodic fever syndromes
- Hyperthyroidism
- Hereditary systemic amyloidosis
- Adult onset neurodegenerative disorder
- Familial dysautonomia
- Hydrocephalus
- Hereditary neuropathy or pain disorder
- Progressive cardiac conduction disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Paroxysmal central nervous system disorders
- Primary lymphoedema
- Intellectual disability
History Filter Activity
2 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TTR were changed from to Heart conduction disease, MONDO:0000992
9 Dec 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to TTR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
2 Dec 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)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