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  2. Congenital Disorders of Glycosylation
  3. SLC10A7
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Congenital Disorders of Glycosylation

Gene: SLC10A7

Green List (high evidence)
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).
Sources: Expert list
Created: 28 Nov 2020, 4:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 28 Nov 2020, 4:41 a.m.

Panel version: 0.230

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363
OMIM
611459
Clinvar variants
Variants in SLC10A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc10a7 has been classified as Green List (High Evidence).

28 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc10a7 has been classified as Green List (High Evidence).

28 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC10A7 was added gene: SLC10A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 30082715; 29878199; 31191616 Phenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 Review for gene: SLC10A7 was set to GREEN