Multiple joint dislocations and laxity
Gene: SLC10A7

SLC10A7 (solute carrier family 10 member 7)
EnsemblGeneIds (GRCh38): ENSG00000120519
EnsemblGeneIds (GRCh37): ENSG00000120519
OMIM: 611459, Gene2Phenotype
SLC10A7 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported with bi-allelic variants in this gene and skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. Gene product has a putative role in the biosynthesis and trafficking of glycoproteins and glycosaminoglycans (proteoglycans).
Created: 28 Nov 2020, 4:43 a.m. | Last Modified: 28 Nov 2020, 4:43 a.m.

Panel Version: 0.5490

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363

Publications

Created: 28 Nov 2020, 4:43 a.m.
Last Modified: 28 Nov 2020, 4:43 a.m.
Panel version: Imported from Mendeliome panel version 0.5490

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Literature
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363
skeletal dysplasia and amelogenesis imperfecta

OMIM

611459

Clinvar variants

Variants in SLC10A7

Penetrance

None

Publications

30082715

Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 3

Added New Source, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

Source Victorian Clinical Genetics Services was added to SLC10A7. Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363; skeletal dysplasia and amelogenesis imperfecta for gene: SLC10A7

12 Feb 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: SLC10A7 was added gene: SLC10A7 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,Literature Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 30082715 Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363

Multiple joint dislocations and laxity Gene: SLC10A7