Childhood onset dystonia, chorea or related movement disorder
Gene: FUCA1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 19 May 2021, 12:19 p.m. | Last Modified: 19 May 2021, 12:19 p.m.
Panel Version: 1.118
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Multiple variants reported, with dystonia present in 9/75 cases of fucosidosis OMIM:230000 (PMID: 31064022).Created: 19 May 2021, 12:19 p.m. | Last Modified: 19 May 2021, 12:19 p.m.
Panel Version: 1.117
Dystonia was present in 9/75 Fucosidosis cases in a literature review (PMID: 31064022).Created: 5 Sep 2020, 8:07 a.m. | Last Modified: 5 Sep 2020, 8:07 a.m.
Panel Version: 1.49
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis, MIM#230000
Publications
Tag Q2_21_rating was removed from gene: FUCA1.
Source Expert Review Green was added to FUCA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: FUCA1.
Gene: fuca1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: FUCA1 were changed from to Fucosidosis OMIM:230000; fucosidosis MONDO:0009254
Publications for gene: FUCA1 were set to
Mode of inheritance for gene: FUCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: FUCA1 was added gene: FUCA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FUCA1 was set to