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Research panel - Severe Paediatric 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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: XYLT1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Desbuquois dysplasia 2, 615777 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
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; 22711505; 30554721

8 Oct 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: XYLT1 were set to 23982343; 24581741; 22711505; 30554721; 30847515

8 Oct 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: XYLT1 were set to 30847515

8 Oct 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag STR tag was added to gene: XYLT1.

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene XYLT1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene XYLT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to XYLT1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to XYLT1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: XYLT1 was added gene: XYLT1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: XYLT1 was set to