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  3. XYLT1
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Fetal anomalies

Gene: XYLT1

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

2 reviews

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, 2:32 p.m. | Last Modified: 8 Oct 2024, 2:32 p.m.
Panel Version: 4.197
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: 4.197
Created: 8 Oct 2024, 2:31 p.m.
Last Modified: 8 Oct 2024, 2:31 p.m.
Panel version: 4.197

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for DESBUQUOIS DYSPLASIA 2
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.161

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • 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 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.

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: XYLT1 was added gene: XYLT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2