Hereditary Neuropathy - complex
Gene: TTR
Well-established gene-disease association with neuropathy a prominent feature of the condition.
Individuals with hereditary amyloidosis typically present with a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis.Created: 10 Aug 2023, 12:36 a.m. | Last Modified: 10 Aug 2023, 12:36 a.m.
Panel Version: 0.237
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, hereditary, transthyretin-related MIM#105210
Publications
Gene: ttr has been classified as Green List (High Evidence).
Phenotypes for gene: TTR were changed from Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN to Amyloidosis, hereditary, transthyretin-related MIM#105210; Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN
Publications for gene: TTR were set to
gene: TTR was added gene: TTR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN