Childhood onset dystonia, chorea or related movement disorder
Gene: HYLS1

HYLS1 (HYLS1, centriolar and ciliogenesis associated)
EnsemblGeneIds (GRCh38): ENSG00000198331
EnsemblGeneIds (GRCh37): ENSG00000198331
OMIM: 610693, Gene2Phenotype
HYLS1 is in 16 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Red
London North GLH

Phenotypes

Joubert syndrome
Hydrolethalus syndrome, 236680

OMIM

610693

Clinvar variants

Variants in HYLS1

Penetrance

None

Publications

18648327 - Hydrolethalus syndrome
19656802 - impairment in ciligenesis
15843405 - Hydrolethalus syndrome
26830932 - report in two siblings with Joubert syndrome

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to HYLS1. Mode of inheritance for gene HYLS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome; Hydrolethalus syndrome, 236680 for gene: HYLS1 Publications for gene HYLS1 were changed from to 18648327 - Hydrolethalus syndrome; 19656802 - impairment in ciligenesis; 15843405 - Hydrolethalus syndrome; 26830932 - report in two siblings with Joubert syndrome