Holoprosencephaly - NOT chromosomal
Gene: HS2ST1EnsemblGeneIds (GRCh38): ENSG00000153936
EnsemblGeneIds (GRCh37): ENSG00000153936
OMIM: 604844, Gene2Phenotype
HS2ST1 is in 8 panels
1 review
Ivone Leong (Genomics England Curator)
This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. Only 2 of 3 unrelated families with affected individuals described in PMID: 33159882 were reported to have ID. The affected individuals in the third family could not be assessed for ID. Other features affected individuals had were muscular hypotonia, hypoplasia/agenesis of corpus callosum (2/3), skeletal abnormalities, uni/bilateral renal agenesis (2/3) and craniofacial dysmorphism. This gene has been given an Amber review.Created: 21 Dec 2020, 11:59 a.m. | Last Modified: 21 Dec 2020, 12:03 p.m.
Panel Version: 2.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability; dysmorphic features; congenital anomalies
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Intellectual disability
- dysmorphic features
- congenital anomalies
- Tags
- OMIM
- 604844
- Clinvar variants
- Variants in HS2ST1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: hs2st1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: HS2ST1 was added gene: HS2ST1 was added to Holoprosencephaly. Sources: Literature watchlist tags were added to gene: HS2ST1. 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 Review for gene: HS2ST1 was set to AMBER