Arthrogryposis
Gene: HS2ST1EnsemblGeneIds (GRCh38): ENSG00000153936
EnsemblGeneIds (GRCh37): ENSG00000153936
OMIM: 604844, Gene2Phenotype
HS2ST1 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
4 affected individuals from three unrelated families. Three of the individuals (two families) had arthrogryposis.
Sources: LiteratureCreated: 7 Dec 2020, 7:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194
- Intellectual disability
- dysmorphic features
- congenital anomalies
- arthrogryposis
- OMIM
- 604844
- Clinvar variants
- Variants in HS2ST1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hs2st1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hs2st1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HS2ST1 was added gene: HS2ST1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis Review for gene: HS2ST1 was set to AMBER