Thoracic dystrophies
Gene: HYLS1EnsemblGeneIds (GRCh38): ENSG00000198331
EnsemblGeneIds (GRCh37): ENSG00000198331
OMIM: 610693, Gene2Phenotype
HYLS1 is in 16 panels
3 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases for causation. Fetal loss / early neonatal death from severe ciliopathy phenotypeCreated: 25 May 2017, 12:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYDROLETHALUS SYNDROME 1; HLS1, # 236680
Hannah Mitchison (UCL and GOSH)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- HYDROLETHALUS SYNDROME 1
- HLS1, # 236680
- OMIM
- 610693
- Clinvar variants
- Variants in HYLS1
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- DDG2P
- Clefting
- Familial Neural Tube Defects
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Skeletal dysplasia
- Fetal anomalies
- 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
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for HYLS1 were set to HYDROLETHALUS SYNDROME 1; HLS1, # 236680
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for HYLS1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)HYLS1 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory