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  3. XYLT1
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Intellectual disability syndromic and non-syndromic

Gene: XYLT1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note phenotypic overlap between Desbuquois dysplasia and Baratela-Scott syndrome, uncertain if separate entities. BSS has mild/moderate ID as a feature. Also note identification of deletions and triplet expansion in promoter region in some individuals with BSS.
Created: 22 Dec 2020, 12:39 a.m. | Last Modified: 22 Dec 2020, 12:39 a.m.
Panel Version: 0.3335

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 22 Dec 2020, 12:39 a.m.
Last Modified: 22 Dec 2020, 12:39 a.m.
Panel version: 0.3335

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Skeletal dysplasia with ID.
Created: 4 Dec 2019, 12:59 p.m. | Last Modified: 4 Dec 2019, 12:59 p.m.
Panel Version: 0.311

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desbuquois dysplasia 2; OMIM# 615777

Publications

Created: 4 Dec 2019, 12:59 p.m.
Last Modified: 4 Dec 2019, 12:59 p.m.
Panel version: 0.311

History Filter Activity

22 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2; OMIM# 615777 to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome

22 Dec 2020, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: XYLT1. Tag STR tag was added to gene: XYLT1.

14 Jan 2020, 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).

4 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from XYLT1. Source Expert list was added to XYLT1. Mode of inheritance for gene XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2; OMIM# 615777 Publications for gene XYLT1 were changed from PubMed: 24581741; 22711505; 23982343 to PubMed: 24581741; 22711505; 23982343

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XYLT1 was added gene: XYLT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XYLT1 was set to Unknown