Search GLEAM-DB / CoGenEx-PM3
Advanced search and filters
Input query
Recognized gene
IDUA
Normalized c.HGVS
c.1051G>A, c.1070C>T, c.1088G>A, c.1091C>A, c.1091C>G and 44 more
Normalized p.HGVS
p.(Ala26Thr), p.(Ala351Thr), p.(Arg100Gly), p.(Arg166Thr), p.(Arg263Trp) and 43 more
Matching records
159
PM3-positive records
33
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 |
|---|---|---|---|---|---|---|
| IDUA |
NM_000203.5:c.1577T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.228 T>A; p.Tyr76Ter
context: Confirmed in trans
|
37181073
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report.
Therapeutic advances in rare disease, 2023
|
Main article | |
| IDUA |
NM_000203.5:c.1577T>C
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.241C>T; p.P81S
context: Confirmed in trans
|
30093709
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
|
Main article | |
| IDUA |
NM_000203.5:c.241C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1557T>C; p.L526P
context: Confirmed in trans
|
30093709
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
|
Main article | |
| IDUA |
NM_000203.5:c.355G>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.99 T > G; H33Q
context: Confirmed in trans
|
24053568
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.
Orphanet journal of rare diseases, 2013
|
Main article | |
| IDUA |
NM_000203.5:c.1757C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
41353341
Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.
Orphanet journal of rare diseases, 2025
|
Main article | |
| IDUA |
NM_000203.5:c.250G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41283362
Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele.
International journal of neonatal screening, 2025
|
Main article | |
| IDUA |
NM_000203.5:c.355G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.911del; p.Val304Glyfs*13
context: Compound heterozygous candidate
|
38739391
Newborn Screening for 6 Lysosomal Storage Disorders in China.
JAMA network open, 2024
|
Main article | |
| IDUA |
NM_000203.5:c.1577T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.235G > A; c.296C > T; p.Ala79Thr; +1 more
context: Compound heterozygous candidate
|
35787971
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Molecular genetics and metabolism, 2022
|
Main article | |
| IDUA |
NM_000203.5:c.247C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.235G > A; p.Ala79Thr
context: Compound heterozygous candidate
|
35787971
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Molecular genetics and metabolism, 2022
|
Main article | |
| IDUA |
NM_000203.5:c.298A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1898C > A; p.Ser633Ter
context: Compound heterozygous candidate
|
35787971
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Molecular genetics and metabolism, 2022
|
Main article | |
| IDUA |
NM_000203.5:c.848T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.757G > T; p.Gly253Cys
context: Compound heterozygous candidate
|
35787971
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Molecular genetics and metabolism, 2022
|
Main article | |
| IDUA |
NM_000203.5:c.1861C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.208C>T
context: Compound heterozygous candidate
|
35141277
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
Frontiers in molecular biosciences, 2022
|
Main article | |
| IDUA |
NM_000203.5:c.250G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.250G>C
context: Compound heterozygous candidate
|
35141277
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
Frontiers in molecular biosciences, 2022
|
Main article | |
| IDUA |
NM_000203.5:c.531C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.208C>T
context: Compound heterozygous candidate
|
35141277
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
Frontiers in molecular biosciences, 2022
|
Main article | |
| IDUA |
NM_000203.5:c.1828+5G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1093C>G; c.1463G>C; p.L365V; +1 more
context: Compound heterozygous candidate
|
34573925
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.
Diagnostics (Basel, Switzerland), 2021
|
Main article | |
| IDUA |
NM_000203.5:c.355G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.617C>T; p.S206L
context: Compound heterozygous candidate
|
34573925
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.
Diagnostics (Basel, Switzerland), 2021
|
Main article | |
| IDUA |
NM_000203.5:c.76G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.911delT; p.V304Gfs*13
context: Compound heterozygous candidate
|
34573925
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.
Diagnostics (Basel, Switzerland), 2021
|
Main article | |
| IDUA |
NM_000203.5:c.251G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.246C > G; p.His82Gln
context: Compound heterozygous candidate
|
33578874
Epidemiology of Mucopolysaccharidoses Update.
Diagnostics (Basel, Switzerland), 2021
|
Main article | |
| IDUA |
NM_000203.5:c.355G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with c.99T > G; H33Q
context: Confirmed in trans
|
33578874
Epidemiology of Mucopolysaccharidoses Update.
Diagnostics (Basel, Switzerland), 2021
|
Main article | |
| IDUA |
NM_000203.5:c.251G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.His82Gln
context: Compound heterozygous candidate
|
33203019
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.
International journal of neonatal screening, 2020
|
Main article | |