Table 3 Reported variants of clinical interest reported by variant type

From: Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

ID

Age/gender

Family structurea

Phenotype

Genomic variant(s)

{molecular state- inheritance}

Associated condition (phenotype MIM number)

Classificationb

P42

6-yo/F

Duo analysis

Congenital inflammatory myopathy, hypotonia, absent reflexes, muscle pain, motor delay

1.6 Mb gain at 16p13.11

(chr16:14800000-1640000)

16p13.11 microduplication syndrome

P

P43

3-yo/M

Trio analysis

DD, bilateral cryptorchidism, macrocephaly, mild hepatosplenomegaly, frequent respiratory infections, dysmorphic facies

USP7 c.1033G>A (p.Glu345Lys) {het-DN}

[NM_003470.2]

Disease association NOS

VUS

P44

5-yo/F

Trio

DD, speech delay, post-natal growth deficiency, microcephaly, dysmorphic facies, low frontal hair line with a widow’s peak, synophrys, hirsutism, prominent fetal pads, bifid distal phalanx of the left second toe with small nails, hypoplasia of the labia majora and labia minora with possible absence of clitoris with an anterior anus and ano-vaginal fistula.

VPS13B c.3767T>G (p.Met1256Arg) {het-mat}

[NM_017890.4]

VPS13B c.3811A>T (p.Thr1271Ser) {het-pat}

[NM_017890.4]

VPS13B c.7787C>T (p.Ser2596Phe) {het-pat}

[NM_017890.4]

Cohen syndrome (216550); AR

VUS

VUS

VUS

P45

5-yo/M

Trio

Global DD, feeding difficulties, behavioral issues including hyperactivity and aggression

EP300 c.1528+3_1528+10delAAGTTTGT

{het-DN}

[NM_001429.3]

Rubinstein-Taybi syndrome (613684); AD

VUS

  1. M male, F female, P pathogenic, VUS variant of unknown significance, DD developmental delay, AR autosomal recessive, AD autosomal dominant, het heterozygous, mat maternal, pat paternal, DN de novo, NOS not otherwise specified
  2. aAll family members sequenced for family-based analysis were unaffected unless otherwise specified in the table
  3. bClassification per ICSL laboratory interpretation, following the general framework of the ACMG Guidelines20
Back to article page