Rare multisystem ciliopathy disorders
Gene: HYLS1EnsemblGeneIds (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
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Hydrolethalus syndrome, 236680
- Joubert syndrome
- OMIM
- 610693
- Clinvar variants
- Variants in HYLS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- DDG2P
- Fetal anomalies
- Clefting
- Familial Neural Tube Defects
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Anonymous ()Publications for HYLS1 were set to 26830932 - report in two siblings with Joubert syndrome; 19656802 - impairment in ciligenesis; 18648327 - Hydrolethalus syndrome; 15843405 - Hydrolethalus syndrome
Set publications
Anonymous ()Publications for HYLS1 were set to 26830932 - report in two siblings with Joubert syndrome; 19656802 - impairment in ciligenesis;18648327 - Hydrolethalus syndrome
Set publications
Anonymous ()Publications for HYLS1 were set to 26830932 - report in two siblings with Joubert syndrome; 19656802 - impairment in ciligenesis
Set Phenotypes
Anonymous ()Phenotypes for HYLS1 were set to Hydrolethalus syndrome, 236680;Joubert syndrome
Set publications
Anonymous ()Publications for HYLS1 were set to 26830932 - report in two siblings with Joubert syndrome
Set publications
Anonymous ()Publications for HYLS1 were set to 26830932
Upload gene information
Ellen McDonagh (Genomics England Curator)HYLS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)HYLS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)HYLS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene HYLS1 were set to Hydrolethalus syndrome, 236680
Added New Source
Ellen McDonagh (Genomics England Curator)HYLS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)HYLS1 was created by ellenmcdonagh