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  3. XYLT1
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Likely inborn error of metabolism

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: 6.18
Created: 8 Oct 2024, 2:31 p.m.
Last Modified: 8 Oct 2024, 2:31 p.m.
Panel version: 6.18

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
None
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 23982343; 24581741

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

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Desbuquois dysplasia 2 for gene: XYLT1

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: XYLT1 was added gene: XYLT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT1 were set to 23982343; 24581741 Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2