Familial Neural Tube Defects
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
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Details
- Sources
-
- UKGTN
- Phenotypes
-
- Meckel Syndrome
- OMIM
- 610693
- Clinvar variants
- Variants in HYLS1
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Skeletal dysplasia
- Limb disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- Hydrocephalus
- Familial Neural Tube Defects
- Renal ciliopathies
- Ductal plate malformation
- Fetal anomalies
- Rare multisystem ciliopathy disorders
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
- Intellectual disability
History Filter Activity
25 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
22 Sep 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)HYLS1 was created by oniblock
22 Sep 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)HYLS1 was added to Familial Neural Tube Defectspanel. Sources: UKGTN