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  3. XYLT1
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Skeletal Dysplasia_Fetal

Gene: XYLT1

Green List (high evidence)
XYLT1 (xylosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000103489
EnsemblGeneIds (GRCh37): ENSG00000103489
OMIM: 608124, Gene2Phenotype
XYLT1 is in 12 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Prenatally detected skeletal anomalies such as short long bones described.
Sources: Literature
Created: 19 Sep 2022, 7:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome

Publications

Created: 19 Sep 2022, 7:41 a.m.

Panel version: 0.91

History Filter Activity

21 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xylt1 has been classified as Green List (High Evidence).

21 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xylt1 has been classified as Green List (High Evidence).

19 Sep 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: XYLT1 was added gene: XYLT1 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT1 were set to 35081921; 30554721; 24581741; 23982343 Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome Review for gene: XYLT1 was set to GREEN