Clefting disorders
Gene: XYLT1
XYLT1 (xylosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000103489
EnsemblGeneIds (GRCh37): ENSG00000103489
OMIM: 608124, Gene2Phenotype
XYLT1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000103489
EnsemblGeneIds (GRCh37): ENSG00000103489
OMIM: 608124, Gene2Phenotype
XYLT1 is in 12 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- DESBUQUOIS DYSPLASIA 2
- DBQD2
- OMIM
- 608124
- Clinvar variants
- Variants in XYLT1
- Penetrance
- None
- Panels with this gene
-
- Repeat Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Short Long Bones with Advanced Carpal Bone Age
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Multiple joint dislocations and laxity
- Mendeliome
- Intellectual disability syndromic and non-syndromic
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: XYLT1 was added gene: XYLT1 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2; DBQD2