Familial dysautonomia

Gene: TTR

The 'treatable' tag has been added due to new therapies available that target this gene. Inotersen is an antisense oligonucleotide inhibitor of mutant and wild-type human transthyretin (TTR), developed and approved by NICE for the treatment of hereditary transthyretin amyloidosis (hATTR) (PMID: 30120737, https://www.nice.org.uk/guidance/hst9/chapter/1-Recommendations) Patisiran is a small interfering RNA (siRNA) molecule that targets the transthyretin gene (TTR) messenger mRNA (mRNA), to suppress both mutant and wild-type amyloid transthyretin (ATTR) protein production. This drug has been approved by NHSE for treatment of transthyretin-mediated amyloidosis (https://www.bbc.co.uk/news/health-48907976)

Created: 9 Jul 2019, 9:42 a.m. | Last Modified: 9 Jul 2019, 9:42 a.m.

Panel Version: 1.6

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Publications

• 30878017
• 31131842
• 31118583
• 31111153
• 30120737

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on list classification: To stay as amber until all recruited children in pilot study have had their testing and then can promote to green

Created: 28 Nov 2016, 11:08 a.m.

Late onset. Autonomic findings include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence

Created: 21 Nov 2016, 10:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Publications

• 12978172