Ophthalmological ciliopathies
Gene: HYLS1
HYLS1 (HYLS1, centriolar and ciliogenesis associated)
EnsemblGeneIds (GRCh38): ENSG00000198331
EnsemblGeneIds (GRCh37): ENSG00000198331
OMIM: 610693, Gene2Phenotype
HYLS1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000198331
EnsemblGeneIds (GRCh37): ENSG00000198331
OMIM: 610693, Gene2Phenotype
HYLS1 is in 16 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Important differential of Meckel syndromeCreated: 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
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Clefting
- Familial Neural Tube Defects
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
8 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: HYLS1 was added gene: HYLS1 was added to Ophthalmological 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 18648327; 26830932; 19656802; 15843405 Phenotypes for gene: HYLS1 were set to Joubert syndrome; Hydrolethalus syndrome, 236680