Case#: Patient 9 (see Table 1), 5 years old - deceased (age at report), 1 year old (age at onset), female, height of 102 cm, weight of 18 kg, located at Mahdia: Touristic region.

DiseaseAssertion: MPS1 - severe

FamilyInfo: Parents were 1st cousins (see Table 2), aged 50 yrs (M) and 62 yrs (F).

CasePresentingHPOs: HP:0004322, HP:0010864, HP:0001537, HP:0000687, HP:0030812, HP:0001999, HP:0007957, HP:0000943 (Short stature, severe intellectual disability, umbilical hernia, widely spaced teeth, enlarged tonsils, facial dysmorphia, corneal clouding, dysostosis multiplex)

CaseHPOFreeText: Pigmented skin

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: IDUA activity 0.020 μKat/kg

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1882C>T (p.R628X)

Variant1ClinVarID: 550421

Variant1CAID: CA2802462

Variant2: c.1882C>T (p.R628X)

Variant2ClinVarID: 550421

Variant2CAID: CA2802462

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

This variant was mentioned as being previously published (PMID: 12559846). Structural changes for this variant were analyzed by calculating RMSD and predicted this variant to result in a severe phenotype. However, this type of prediction is not used by the LD VCEP.

This variant was mentioned as being previously published (PMID: 12559846). Structural changes for this variant were analyzed by calculating RMSD and predicted this variant to result in a severe phenotype. However, this type of prediction is not used by the LD VCEP.

Patients 2, 4, and 5 are all homozygous for this variant. Previously published in PMID: 22718273

Patients 2, 4, and 5 are all homozygous for this variant. Previously published in PMID: 22718273

This paper uses in silico predictors to evaluate variants. Prediction is severe for this variant.

This paper uses in silico predictors to evaluate variants. Prediction is severe for this variant.

This variant is mentioned in reference to previously published papers that report IEMs

This variant is mentioned in reference to previously published papers that report IEMs

Case#: Severe MPS1 patients, 6 individuals with this genotype

DiseaseAssertion: Severe MPS I

FamilyInfo: n/a

CasePresentingHPOs:

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: n/a

GenotypingMethod: n/a

PreviouslyPublished: possible

Variant: R628X/R628X

ClinVar: 550421

CAID: CA2802462

SupplementalData: Table S1 also lists this variant one time in compound heterozygosity with Q70X

Case#: Severe MPS1 patients, 6 individuals with this genotype

DiseaseAssertion: Severe MPS I

FamilyInfo: n/a

CasePresentingHPOs:

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: n/a

GenotypingMethod: n/a

PreviouslyPublished: possible

Variant: R628X/R628X

ClinVar: 550421

CAID: CA2802462

SupplementalData: Table S1 also lists this variant one time in compound heterozygosity with Q70X

Case#: Patient 2.1.1, male, 4yo, Indian

DiseaseAssertion: MPS1

FamilyInfo: No family history reported, but said not to be consanguineous

CasePresentingHPOs:

CaseHPOFreeText: Distended abdomen, developmental delay

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: NGS, Sanger

PreviouslyPublished:

Variant: c.1882C > T p. Arg628Ter homozygous

ClinVar: 550421

CAID: CA2802462

SupplementalData: n/a

Case#: Patient 2.1.1, male, 4yo, Indian

DiseaseAssertion: MPS1

FamilyInfo: No family history reported, but said not to be consanguineous

CasePresentingHPOs:

CaseHPOFreeText: Distended abdomen, developmental delay

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: NGS, Sanger

PreviouslyPublished:

Variant: c.1882C > T p. Arg628Ter homozygous

ClinVar: 550421

CAID: CA2802462

SupplementalData: n/a

This proband was "described and recently published by Vazna et al." (PMID: 19396826). Patient is compound heterozygous for c.1882C>T (p.Arg628Ter) and c.208C>T (p.Gln70Ter) (P based on classification by the ClinGen Lysosomal Diseases VCEP); phase confirmed in trans. PM3=0 points

This proband was "described and recently published by Vazna et al." (PMID: 19396826). Patient is compound heterozygous for c.1882C>T (p.Arg628Ter) and c.208C>T (p.Gln70Ter) (P based on classification by the ClinGen Lysosomal Diseases VCEP); phase confirmed in trans. PM3=0 points