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Undiagnosed metabolic disorders

Gene: XYLT1

Green List (high evidence)
XYLT1 (xylosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000103489
EnsemblGeneIds (GRCh37): ENSG00000103489
OMIM: 608124, Gene2Phenotype
XYLT1 is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).
Created: 8 Oct 2024, 2:31 p.m. | Last Modified: 8 Oct 2024, 2:31 p.m.
Panel Version: 1.622
Created: 8 Oct 2024, 2:31 p.m.
Last Modified: 8 Oct 2024, 2:31 p.m.
Panel version: 1.622

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2, OMIM:615777
  • Desbuquois dysplasia 2, MONDO:0014343
Tags
STR
OMIM
608124
Clinvar variants
Variants in XYLT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Oct 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343

8 Oct 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: XYLT1 were set to

8 Oct 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag STR tag was added to gene: XYLT1.

19 Oct 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2 to Desbuquois dysplasia 2, 615777

27 Feb 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

20 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

XYLT1 was added to Undiagnosed metabolic disorderspanel. Sources: Expert Review Green

20 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

XYLT1 was created by sleigh