Childhood onset dystonia, chorea or related movement disorder
Gene: HTTComment on mode of inheritance: Biallelic SNVs have been reported for Lopes-Maciel-Rodan syndromeCreated: 10 Nov 2021, 3:22 p.m. | Last Modified: 10 Nov 2021, 3:22 p.m.
Panel Version: 1.188
Lopes-Maciel-Rodan syndrome is relevant and not Huntington Disease (as caused by nucleotide repeat expansion rather than SNV). Two unrelated families currently reported for Lopes-Maciel-Rodan syndrome, therefore rating status made Amber at this time and added the 'watchlist' tag in case further cases are reported. If this gene were to become Green, it is SNVs that should be reported for Lopes-Maciel-Rodan syndrome, and not expansion repeats which cause Huntington disease. Not in Gene2Phenotype gene lists.Created: 10 Nov 2021, 3:21 p.m. | Last Modified: 10 Nov 2021, 3:21 p.m.
Panel Version: 1.186
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lopes-Maciel-Rodan syndrome, OMIM:617435
Publications
Triplet repeat expansion.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Publications for gene: HTT were set to
Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: htt has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: HTT.
Phenotypes for gene: HTT were changed from Huntington disease, 143100 to Lopes-Maciel-Rodan syndrome, OMIM:617435; LOMARS
gene: HTT was added gene: HTT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HTT were set to Huntington disease, 143100