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Table 1 Details of homozygous pathogenic or likely pathogenic variants discovered in this study

From: Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Sample

% ROH

Gene

Chr

Position

HGVS (nucleotide)

HGVS (protein)

Variation type

ExAC Allele Count/Total Allele No.*

Classification

Associated Disorders

ROH04

13.5

TYR

11

88,924,546

c.996G > A

p.M332I

Missense

0/121412

Pathogenic

Oculocutaneous albinism type 1

ROH22

8.9

PCCB

3

136,002,730

c.346C > T

p.P116S

Missense

124/121382

Likely pathogenic

Propionic acidemia

ROH26

4.34

SLC25A15

13

41,381,541

c.564C > G

p.F188L

Missense

1/121412

Likely pathogenic

hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

ROH31

5.0

NDUFV2

18

9,117,901

c.120 + 5_120 + 8delGTAA

–

Splice Donor

0/121412

Pathogenic

Mitochondrial complex 1 deficiency

ROH44

24.55

TPP1

11

6,638,271

c.622C > T

p.R208*

Stop-gain

21/121276

Pathogenic

Neuronal ceroid lipofuscinosis

ROH52

18.1

GJB2

13

20,763,452

c.269 T > C

p.L90P

Missense

107/121346

Pathogenic

Deafness

  1. *For all these variants, there were no homozygotes reported in ExAC