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Inborn errors 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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2
OMIM
608124
Clinvar variants
Variants in XYLT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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