Renal ciliopathies

Gene: HYLS1

Green List (high evidence)

HYLS1 (HYLS1, centriolar and ciliogenesis associated)
EnsemblGeneIds (GRCh38): ENSG00000198331
EnsemblGeneIds (GRCh37): ENSG00000198331
OMIM: 610693, Gene2Phenotype
HYLS1 is in 19 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Important differential of Meckel syndrome
Created: 19 Jan 2017, 2:38 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Enough evidence for association with Hydrolethalus syndrome. One report in two siblings with Joubert syndrome.
Created: 13 Dec 2016, 4:04 p.m.
Comment on list classification: Enough evidence for association with Hydrolethalus syndrome. One report in two siblings with Joubert syndrome.
Created: 13 Dec 2016, 4:04 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Joubert syndrome
  • Hydrolethalus syndrome, 236680
OMIM
610693
Clinvar variants
Variants in HYLS1
Penetrance
None
Publications
  • 26830932 - report in two siblings with Joubert syndrome
  • 19656802 - impairment in ciligenesis
  • 18648327 - Hydrolethalus syndrome
  • 15843405 - Hydrolethalus syndrome
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: HYLS1 was added gene: HYLS1 was added to Renal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYLS1 were set to 26830932 - report in two siblings with Joubert syndrome; 19656802 - impairment in ciligenesis; 18648327 - Hydrolethalus syndrome; 15843405 - Hydrolethalus syndrome Phenotypes for gene: HYLS1 were set to Joubert syndrome; Hydrolethalus syndrome, 236680