Joubert syndrome and other neurological ciliopathies
Gene: HYLS1EnsemblGeneIds (GRCh38): ENSG00000198331
EnsemblGeneIds (GRCh37): ENSG00000198331
OMIM: 610693, Gene2Phenotype
HYLS1 is in 18 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
OMIM notes Dandy Walker anomaly as a neurological feature. All patients results in either stillbirths or neonatal death, so limited information available. Almost all patients have the same recurring missense (p.Asp211Gly)
PMID: 18648327 - describes many patients with the recurring missense mutation. Summary table describes brain features of 19 patients, none appear to be consistent with JS
PMID: 26830932 - 2 homozygous living siblings (stop-loss, extension) both diagnosed with JS. Patients had molar tooth signs and dysplasia of cerebellar vermis
Single reported family, but likely due to a unique mutational spectrum separate from the recurring missense
Sources: Expert listCreated: 13 May 2020, 2:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrolethalus syndrome 236680
Publications
- PMID: 26830932
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Hydrolethalus syndrome 236680
- OMIM
- 610693
- Clinvar variants
- Variants in HYLS1
- Penetrance
- None
- Publications
-
- PMID: 26830932
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Skeletal Dysplasia_Fetal
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Callosome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: HYLS1 was added gene: HYLS1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYLS1 were set to PMID: 26830932 Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome 236680 Review for gene: HYLS1 was set to AMBER