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Repeat Disorders

STR: DBQD2

Green List (high evidence)
Chromosome: 16
GRCh37 Position: 17564765-17564779
GRCh38 Position: 17470908-17470922
Repeated Sequence: GGC
Normal Number of Repeats: < 20
Pathogenic Number of Repeats: = or > 120

XYLT1 (xylosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000103489
EnsemblGeneIds (GRCh37): ENSG00000103489
OMIM: 608124, Gene2Phenotype
XYLT1 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

10 patients from 8 families with homozygosity or compound heterozygosity for a (GGC)n repeat expansion in the XYLT1 promoter region, resulting in hypermethylation of XYLT1 exon 1. The GGC repeat region contains (GGC)n-AGC-(GGC)n-(GGA)n. Other loss of function variants in this gene also cause disease.
Normal: 9-20 GGC repeats
Pathogenic: 120-800 repeats
Sources: Expert list
Created: 29 Aug 2021, 6:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desbuquois dysplasia 2 MIM#615777

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 29 Aug 2021, 6:10 a.m.

Panel version: 0.98

Details

Name
DBQD2
Chromosome
16
GRCh37 Coordinates
17564765-17564779
GRCh38 Coordinates
17470908-17470922
Repeated Sequence
GGC
Normal Number of Repeats: <
20
Pathogenic Number of Repeats: = or >
120
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Desbuquois dysplasia 2 MIM#615777
Tags
paediatric-onset
OMIM
608124
Clinvar variants
Variants in XYLT1
Penetrance
None
Publications

History Filter Activity

1 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: DBQD2.

29 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: dbqd2 has been classified as Green List (High Evidence).

29 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: dbqd2 has been classified as Green List (High Evidence).

29 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: DBQD2 was added STR: DBQD2 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: DBQD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: DBQD2 were set to 30554721 Phenotypes for STR: DBQD2 were set to Desbuquois dysplasia 2 MIM#615777 Review for STR: DBQD2 was set to GREEN STR: DBQD2 was marked as clinically relevant