Skeletal Dysplasia_Fetal
Gene: SLC10A7EnsemblGeneIds (GRCh38): ENSG00000120519
EnsemblGeneIds (GRCh37): ENSG00000120519
OMIM: 611459, Gene2Phenotype
SLC10A7 is in 7 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Prenatal diagnosis of short long bones reported in addition to IUGR disproportionately impacting length.
Sources: Literature, Expert listCreated: 27 Sep 2022, 4:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - MIM#618363
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc10a7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc10a7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: SLC10A7 was added gene: SLC10A7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list 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 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - MIM#618363 Review for gene: SLC10A7 was set to GREEN