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Recognized gene
GUSB
Normalized c.HGVS
c.-10A>T, c.1091C>T, c.1138G>A, c.1222C>T, c.1244C>T and 19 more
Normalized p.HGVS
p.(=), p.(Ala380Thr), p.(Ala442Thr), p.(Ala442Val), p.(Arg116His) and 18 more
Matching records
57
PM3-positive records
14
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| GUSB |
NM_000181.4:c.1091C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.104C>A; Ser35Ter
context: Compound heterozygous candidate
|
40640912
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Orphanet journal of rare diseases, 2025
|
Main article | |
| GUSB |
NM_000181.4:c.1324G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40640912
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Orphanet journal of rare diseases, 2025
|
Main article | |
| GUSB |
NM_000181.4:c.1729C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40640912
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Orphanet journal of rare diseases, 2025
|
Main article | |
| GUSB |
NM_000181.4:c.380A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with Leu322Phe
context: Compound heterozygous candidate
|
38715031
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
Orphanet journal of rare diseases, 2024
|
Main article | |
| GUSB |
NM_000181.4:c.1324G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38149215
A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis.
Molecular genetics and metabolism reports, 2023
|
Main article | |
| GUSB |
NM_000181.4:c.1222C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
36578769
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).
Therapeutics and clinical risk management, 2022
|
Main article | |
| GUSB |
NM_000181.4:c.1325C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.50G > C; p.W17S
context: Compound heterozygous candidate
|
34686181
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.
Orphanet journal of rare diseases, 2021
|
Main article | |
| GUSB |
NM_000181.4:c.1091C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.104C > A; p.Ser35*
context: Confirmed in trans
|
33897756
Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.
Frontiers in genetics, 2021
|
Main article | |
| GUSB |
NM_000181.4:c.1325C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.P67L
context: Compound heterozygous candidate
|
31732130
Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots.
The Journal of pediatrics, 2020
|
Main article | |
| GUSB |
NM_000181.4:c.1222C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with P415L
context: Compound heterozygous candidate
|
26908836
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Journal of medical genetics, 2016
|
Main article | |
| GUSB |
NM_000181.4:c.1244C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.P408S
context: Compound heterozygous candidate
|
26908836
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Journal of medical genetics, 2016
|
Main article | |
| GUSB |
NM_000181.4:c.266A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.D362N
context: Compound heterozygous candidate
|
26908836
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Journal of medical genetics, 2016
|
Main article | |
| GUSB |
NM_000181.4:c.1222C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1244C>T; p.P415L
context: Compound heterozygous candidate
|
19224584
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Human mutation, 2009
|
Main article | |
| GUSB |
NM_000181.4:c.1244C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1222C>T; p.P408S; p.P415L
context: Compound heterozygous candidate
|
19224584
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Human mutation, 2009
|
Main article | |
| GUSB |
NM_000181.4:c.1091C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41149794
Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways.
Neurology international, 2025
|
Main article | |
| GUSB |
NM_000181.4:c.1222C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40275366
Analysis of genomic ancestry and characterization of a new variant in MPS type VII.
Orphanet journal of rare diseases, 2025
|
Main article | |
| GUSB |
NM_000181.4:c.1244C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36578769
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).
Therapeutics and clinical risk management, 2022
|
Main article | |
| GUSB |
NM_000181.4:c.-10A>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35419288
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Frontiers in oncology, 2022
|
Main article and supplement | |
| GUSB |
NM_000181.4:c.493C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35229492
Systematic review and meta-analysis of genomic alterations in acral melanoma.
Pigment cell & melanoma research, 2022
|
Main article | |
| GUSB |
NM_000181.4:c.695C>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
33628140
Technological Advancements in Monoclonal Antibodies.
TheScientificWorldJournal, 2021
|
Main article | |