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Table 2 Summary of known congenital and developmental disorders caused by short tandem repeat expansions.

From: An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

Phenotype (OMIM #) Gene Motif Pathogenic repeat number Location (hg38) References
BPES
(#110100)
FOXL2 GCG 22–24 Exon chr3 138946022 138946062 [116]
CCHS
(#209880)
PHOX2B GCG 24–33 Exon chr4 41745976 41746022 [7]
DBQD2
(#615777)
XYLT1 GGC 100–800 5’ Region chr16 17470869 17470967 [86]
FECD3
(#613267)
TCF4 TGC  > 50 Intron chr18a 55222184a 55635956a [167]
GDPAG
(#618412)
GLS GCA  > 300 5’ Region chr2 190880873 190880920 [159]
HFG
(#140000)
HOXA13 GCG 24–26 Exon chr7 27199827 27199967 [50]
HPE5
(#609637)
ZIC2 GCG 25 Exon chr13 99985449 99985494 [17]
HSAN8
(#616488)
PRDM12 GCG 18–19 Exon chr9 130681606 130681641 [23]
SPD1
(#186000)
HOXD13 GCG 22–29 Exon chr2 176093058 176093099 [2]
XLMR
(#300123)
SOX3 GCG 15–26 Exon chr3 181712415 181712456 [89]
  1. BPES, blepharophimosis, epicanthus inversus, and ptosis; CCHS, congenital central hypoventilation syndrome; DBQD2, Desbuquois dysplasia 2; FECD3, Fuchs endothelial corneal dystrophy 3; GDPAG, global developmental delay, progressive ataxia, and elevated glutamine; HFG, hand-foot-genital syndrome; HPE5, holoprosencephaly 5; SPD1, synpolydactyly 1; XLMR, x-linked mental retardation
  2. aLocation of entire gene listed