Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Intellectual disability v10.10 HS6ST2 Ida Ertmanska Publications for gene: HS6ST2 were set to 30471091; 36993824; 38015989; 40686562
Intellectual disability v10.9 HS6ST2 Ida Ertmanska Publications for gene: HS6ST2 were set to 30471091; 36993824; 40686562
Intellectual disability v10.8 HS6ST2 Ida Ertmanska edited their review of gene: HS6ST2: Changed publications to: 30471091, 36993824, 38015989, 40686562
Intellectual disability v10.8 HS6ST2 Ida Ertmanska changed review comment from: PMID: 30471091 Paganini et al., 2019
Two Italian male twins with intellectual disability and severe myopia and an X-linked hemizygous HS6ST2 variant c.916G>C, p.Gly306Arg (maternally inherited). Psychomotor delay diagnosed at 5 years. In-vitro enzymatic assay showed that the HS6ST2 mutant isoform had significantly reduced sulphotransferase activity.

PMID: 36993824 Sarmadian et al., 2023
Report of a 21mo boy from Iran, referred due to the absence of neck holding and hand tremors (manifestation of seizures). He had delayed developmental milestones such as neck holding, intellectual and walking impairment. Brain MRI showed cerebral atrophy and diffused white matter, and irregularities were seen in his EEG. He also had a ventricular septal defect. WES identified a hemizygous c.979C>T; p.Pro327Ser variant in HS6ST2 - classified as VUS, only 1 heterozygote reported in gnomAD v4.1.1.

PMID: 40686562 Zhang et al., 2025
Report of a 9 month old male Chinese proband with global developmental delay. WES detected a hemizygous c.764C>A (p.Pro255Glu) variant in HS6ST2. No abnormal vision. Brain CT scan revealed a wider left lateral ventricle compared to the contralateral ventricle.; to: PMID: 30471091 Paganini et al., 2019
Two Italian male twins with intellectual disability and severe myopia and an X-linked hemizygous HS6ST2 variant c.916G>C, p.Gly306Arg (maternally inherited). Psychomotor delay diagnosed at 5 years. In-vitro enzymatic assay showed that the HS6ST2 mutant isoform had significantly reduced sulphotransferase activity.

PMID: 36993824 Sarmadian et al., 2023
Report of a 21mo boy from Iran, referred due to the absence of neck holding and hand tremors (manifestation of seizures). He had delayed developmental milestones such as neck holding, intellectual and walking impairment. Brain MRI showed cerebral atrophy and diffused white matter, and irregularities were seen in his EEG. He also had a ventricular septal defect. WES identified a hemizygous c.979C>T; p.Pro327Ser variant in HS6ST2 - classified as VUS, only 1 heterozygote reported in gnomAD v4.1.1.

PMID: 40686562 Zhang et al., 2025
Report of a 9 month old male Chinese proband with global developmental delay. WES detected a hemizygous c.764C>A (p.Pro255Glu) variant in HS6ST2. No abnormal vision. Brain CT scan revealed a wider left lateral ventricle compared to the contralateral ventricle.

Functional evidence: PMID: 38015989 Moon et al., 2024 - Knockout of Hs6st2 in mice decreases heparan sulfate 6-O-sulfation, impairs dendritic spines of hippocampal neurons, and affects memory, providing a link to human HS6ST2-related brain disorders.
Intellectual disability v10.8 HS6ST2 Ida Ertmanska changed review comment from: Comment on list classification: There are now 3 unrelated male individuals with hemizygous HS6ST2 variants and a neurodevelopmental syndrome (ID and/or GDD) - diagnosed with so called Paganini-Miozzo syndrome. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are now 3 unrelated male individuals with hemizygous HS6ST2 variants and a neurodevelopmental syndrome (ID and/or GDD) - diagnosed with so called Paganini-Miozzo syndrome. Hence, this gene should be promoted to Green at the next update. MOI is set to X-LINKED: hemizygous mutation in males, biallelic mutations in females, as heterozygous mother of male sibs in PMID: 30471091 was not affected.
Intellectual disability v10.8 HS6ST2 Ida Ertmanska Publications for gene: HS6ST2 were set to
Intellectual disability v10.7 HS6ST2 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 11th May 2026.
Intellectual disability v10.7 HS6ST2 Ida Ertmanska Phenotypes for gene: HS6ST2 were changed from to ?Paganini-Miozzo syndrome , OMIM:301025; Paganini-Miozzo syndrome, MONDO:0026724
Intellectual disability v10.6 HS6ST2 Ida Ertmanska Mode of inheritance for gene: HS6ST2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v10.5 HS6ST2 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: HS6ST2.
Intellectual disability v10.5 HS6ST2 Ida Ertmanska Classified gene: HS6ST2 as Amber List (moderate evidence)
Intellectual disability v10.5 HS6ST2 Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated male individuals with hemizygous HS6ST2 variants and a neurodevelopmental syndrome (ID and/or GDD) - diagnosed with so called Paganini-Miozzo syndrome. Hence, this gene should be promoted to Green at the next update.
Intellectual disability v10.5 HS6ST2 Ida Ertmanska Gene: hs6st2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v10.4 HS6ST2 Ida Ertmanska reviewed gene: HS6ST2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471091, 36993824, 40686562; Phenotypes: ?Paganini-Miozzo syndrome , OMIM:301025; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females