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Repeat Disorders

STR: VACTERLX

Red List (low evidence)
Chromosome: X
GRCh37 Position: 136648986-136649015
GRCh38 Position: 137566827-137566856
Repeated Sequence: GCC
Normal Number of Repeats: < 10
Pathogenic Number of Repeats: = or > 11

ZIC3 (Zic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

NM_003413.4(ZIC3):c.163GCC[X]
PMID: 20452998 - reports a single case with VACTERL association and an expansion of the poly-Ala tract from 10 to 12 alanines.
PMID: 32639022 - a family with Oculo-auriculo-vertebral spectrum (OAVS) segregates the 11 alanine expansion in affected males
This polyalanine tract is highly polymorphic in gnomAD v2.1, there are 86 hemizygote 12 alanine expansions present and 65 hemizygotes with the 11 alanine expansion. The 13 polyalanine expansion is also present in 13 hemizygotes.
Sources: Literature
Created: 7 Sep 2021, 1:35 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
VACTERL association, X-linked MIM#314390

Publications

Created: 7 Sep 2021, 1:35 a.m.

Panel version: 0.142

Details

Name
VACTERLX
Chromosome
X
GRCh37 Coordinates
136648986-136649015
GRCh38 Coordinates
137566827-137566856
Repeated Sequence
GCC
Normal Number of Repeats: <
10
Pathogenic Number of Repeats: = or >
11
Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • VACTERL association, X-linked MIM#314390
Tags
paediatric-onset
OMIM
300265
Clinvar variants
Variants in ZIC3
Penetrance
None
Publications

History Filter Activity

10 Sep 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: VACTERLX.

7 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: vacterlx has been classified as Red List (Low Evidence).

7 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

STR: VACTERLX was added STR: VACTERLX was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: VACTERLX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: VACTERLX were set to 20452998; 32639022 Phenotypes for STR: VACTERLX were set to VACTERL association, X-linked MIM#314390 Review for STR: VACTERLX was set to RED