Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Gene: HYLS1EnsemblGeneIds (GRCh38): ENSG00000198331
EnsemblGeneIds (GRCh37): ENSG00000198331
OMIM: 610693, Gene2Phenotype
HYLS1 is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Although polydactyly is a feature, main presentation is with severe CNS abnormalities.Created: 24 May 2020, 10:58 a.m. | Last Modified: 24 May 2020, 10:58 a.m.
Panel Version: 0.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrolethalus syndrome, MIM# 236680
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hydrolethalus syndrome, MIM# 236680
- OMIM
- 610693
- Clinvar variants
- Variants in HYLS1
- Penetrance
- None
- 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome, MIM# 236680
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HYLS1 was added gene: HYLS1 was added to Short Rib Polydactyly, Jeune Asphyxiating Thoracic Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HYLS1 was set to Unknown