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Clefting

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, 2:33 p.m. | Last Modified: 8 Oct 2024, 2:33 p.m.
Panel Version: 6.2
Created: 8 Oct 2024, 2:33 p.m.
Last Modified: 8 Oct 2024, 2:33 p.m.
Panel version: 6.2

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

cleft palate has been described in a small number of affected individuals with Desbuquois dysplasia
Created: 31 May 2017, 11:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
DESBUQUOIS DYSPLASIA 2; DBQD2

Created: 31 May 2017, 11:25 a.m.

Panel version: 0.287

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; DBQD2 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.

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

XYLT1 was created by ellenmcdonagh

31 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

XYLT1 was added to Cleftingpanel. Sources: Expert Review Green