CaseP550: Male, 8 yrs onset,

CasePresentingHPOs: HP:0002078, HP:0000639, HP:0007340, HP:0007210, HP:0002495, HP:0001760 (Truncal ataxia, Nystagmus, Lower limb muscle weakness, Lower limb amyotrophy, Impaired vibratory sensation, Abnormal foot morphology)

HPOsFreeText: N/A

CaseNotHPOs: HP:0000648, HP:0001639, HP:0002015, HP:0001260 (Optic atrophy, Hypertrophic cardiomyopathy, Dysphagia, Dysarthria)

NotHPOsFreeText: Not wheelchair-bound

CaseAddInfo: N/A

CasePreviousTesting: 30.9% fratraxin protein levels

CaseGenotypingMethod: See Group

Variant1: FXN, (GAA)n REPEAT EXPANSION, IVS1

ClinVar: 561195, https://www.ncbi.nlm.nih.gov/clinvar/variation/561195/

gnomAD: Not in gnomAD

Variant2: NM_000144.5(FXN):c.157del (p.Arg53fs)

CAID: 3985, https://www.ncbi.nlm.nih.gov/clinvar/variation/3985/

gnomAD: 0.000 MAF

CaseP840: Female, 11 yrs onset,

CasePresentingHPOs: HP:0002078, HP:0002015, HP:0001152, HP:0000639, HP:0007340, HP:0007210, HP:0002495 (Truncal ataxia, Dysphagia, Saccadic smooth pursuit, Nystagmus, Lower limb muscle weakness, Lower limb amyotrophy, Impaired vibratory sensation)

HPOsFreeText: Wheelchair-bound 25 yrs

CaseNotHPOs: HP:0000648, HP:0000365, HP:0001760, HP:0001639 (Optic atrophy, Hearing impairment, Abnormal foot morphology, Hypertrophic cardiomyopathy)

NotHPOsFreeText: N/A

CaseAddInfo: N/A

CasePreviousTesting: 19.9% fratraxin protein levels

CaseGenotypingMethod: See Group

Variant1: FXN, (GAA)n REPEAT EXPANSION, IVS1

ClinVar: 561195, https://www.ncbi.nlm.nih.gov/clinvar/variation/561195/

gnomAD: Not in gnomAD

Variant2: NM_000144.5:c.101del (p.Pro35HisfsTer?)

CAID: CA193369020, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA193369020

gnomAD: Not in gnomAD

CaseP785: Male, 10 yrs onset

CasePresentingHPOs: HP:0007340, HP:0007210, HP:0002495, HP:0001639 (Lower limb muscle weakness, Lower limb amyotrophy, Impaired vibratory sensation, Hypertrophic cardiomyopathy)

HPOsFreeText: Wheelchair-bound 25 yrs

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: N/A

CasePreviousTesting: 21.8% fratraxin protein levels

CaseGenotypingMethod: See Group

Variant1: FXN, (GAA)n REPEAT EXPANSION, IVS1

ClinVar: 561195, https://www.ncbi.nlm.nih.gov/clinvar/variation/561195/

gnomAD: Not in gnomAD

Variant2: NM_000144.5:c.99del (p.Ala34ProfsTer?)

CAID: CA193369008, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA193369008

gnomAD: Not in gnomAD

CaseP585: Male, 14 yrs onset

CasePresentingHPOs: HP:0002078, HP:0001152, HP:0000639, HP:0007340, HP:0007210, HP:0002495, HP:0001639 (Truncal ataxia, Saccadic smooth pursuit, Nystagmus, Lower limb muscle weakness, Lower limb amyotrophy, Impaired vibratory sensation, Hypertrophic cardiomyopathy)

HPOsFreeText: Wheelchair-bound 22 yrs

CaseNotHPOs: HP:0000648, HP:0000365, HP:0001760, HP:0002015 (Optic atrophy, Hearing impairment, Abnormal foot morphology, Dysphagia)

NotHPOsFreeText: N/A

CaseAddInfo: N/A

CasePreviousTesting: 19.4% fratraxin protein levels

CaseGenotypingMethod: See Group

Variant1: FXN, (GAA)n REPEAT EXPANSION, IVS1

ClinVar: 561195, https://www.ncbi.nlm.nih.gov/clinvar/variation/561195/

gnomAD: Not in gnomAD

Variant2: NM_000144.5:c.354C>G (p.Tyr118Ter)

CAID: CA193385376, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA193385376

gnomAD: Not in gnomAD