FamilyName: Family 2

FamilyPresentingHPOs: HP:0000685

FamilyNotHPOs:

CountryOrigin: Pakistan

Ethnicity: Pakistani

Race: Asian

FamilyPreviousTesting: n/a

FamilyMethod1: WES

FamilyMethod2:

FamilyGenotypingMethod: Whole exome sequencing identified 26 regions of homozygosity for Family 1, specifically from WES of the proband IV:3 (Supplemental Table 4).

Affected: 1

Unaffected: 2

Segregations: 0

Consanguineous: yes

PublishedLOD: n/a The minimum requirement for segregation inclusion is not met according to the ClinGen SOP version 6.

eLOD: n/a

AddSegregationInfo: Three other siblings were not tested for the variant, and appeared to not have the phenotype, including a set of twins (whether dizygotic or monozygotic was not noted).

ProbandLabel: Family 2-IV:2, female

Variant: NM_033068.2(ACP4):c.428C>T (p.Thr143Met)

Assumed Homozygous, only the mother was tested for the ACPT mutation, not the father.

ClinVar: 375700

gnomAD: MAF= 0.0001592 (Other 1/6282) AFt=5.210E-4, no homozygotes.

FamilyAddInfo: WES identified 26 regions of homozygosity for Family 1 (Supplemental Table 4).

Variant deposited into the Leeds AI repository in LOVD, variant #0000000187.

FamilyPMIDs:

CasePresentingHPOs:

CaseNOTHPOS:

CasePreviousTesting: n/a

CaseGenotypingMethod: WES identified 26 regions of homozygosity in which 2 genes, other than ACPT were flagged. These 2 genes/ variants are C18orf25:c.517G>C(p.G172C) (not in gnoMAD) and BTBD7:c.1083G>T(p.K361N) (in gnoMAD, 176 hets and 1 homozyoug AF= 0.007). These variants segregated with disease along with the ACPT variation.

FamilyName: Family 2

FamilyPresentingHPOs: HP:0000685

FamilyNotHPOs:

CountryOrigin: Pakistan

Ethnicity: Pakistani

Race: Asian

FamilyPreviousTesting: n/a

FamilyMethod1: WES

FamilyMethod2:

FamilyGenotypingMethod: Whole exome sequencing identified 26 regions of homozygosity for Family 1, specifically from WES of the proband IV:3 (Supplemental Table 4).

Affected: 1

Unaffected: 2

Segregations: 0

Consanguineous: yes

PublishedLOD: n/a The minimum requirement for segregation inclusion is not met according to the ClinGen SOP version 6.

eLOD: n/a

AddSegregationInfo: Three other siblings were not tested for the variant, and appeared to not have the phenotype, including a set of twins (whether dizygotic or monozygotic was not noted).

ProbandLabel: Family 2-IV:2, female

Variant: NM_033068.2(ACP4):c.428C>T (p.Thr143Met)

Assumed Homozygous, only the mother was tested for the ACPT mutation, not the father.

ClinVar: 375700

gnomAD: MAF= 0.0001592 (Other 1/6282) AFt=5.210E-4, no homozygotes.

FamilyAddInfo: WES identified 26 regions of homozygosity for Family 1 (Supplemental Table 4).

Variant deposited into the Leeds AI repository in LOVD, variant #0000000187.

FamilyPMIDs:

CasePresentingHPOs:

CaseNOTHPOS:

CasePreviousTesting: n/a

CaseGenotypingMethod: WES identified 26 regions of homozygosity in which 2 genes, other than ACPT were flagged. These 2 genes/ variants are C18orf25:c.517G>C(p.G172C) (not in gnoMAD) and BTBD7:c.1083G>T(p.K361N) (in gnoMAD, 176 hets and 1 homozyoug AF= 0.007). These variants segregated with disease along with the ACPT variation.