Amelogenesis imperfecta

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 4 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Upgrading to green as the are now 6 distinct families with identified variants in SLC10A7 and a relevant phenotype. Evidence also from zebrafish and mouse models.
Created: 15 May 2019, 1:29 p.m.
Associated with Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 in OMIM.

PMID: 29878199 - Ashikov et al 2018 - sib pair (P17, P33) with compound heterozgyosity for variants in SLC10A7. Two other patients (P32 and P39) with similar glycomics data of total plasma proteins were found to have no SLC10A7 expression but no genetic variant of possible pathogenicity were found in these patients. Patients with SLC10A7 deficiency share an overlapping clinical phenotype, characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual development. The patients’ phenotype was mirrored in SLC10A7 deficient zebrafish.

PMID: 30082715 - Dubail et al 2018 - by exome sequencing identified homozygous mutations in SLC10A7 in six individuals from 4 unrelated families (consangineous parents, Turkey and Iran), and 2 distantly related families (Netherlands) with skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. A Slc10a7-/- mouse model, which displays shortened long bones, growth plate disorganization and tooth enamel anomalies, recapitulating the human phenotype.
Created: 15 May 2019, 1:26 p.m.

Claire Smith (University of Leeds)

Green List (high evidence)

Two papers have reported biallelic SLC10A7 variants in ten unrelated families in total, all with biallelic SLC10A7 mutations and a SSASKS phenotype: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (PMID: 29878199, 30082715). More variable features were noted as facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development. Murine models recapitulate the human phenotype with shortened long bones, growth plate disorganization and tooth enamel anomalies (PMID: 30082715). SLC10A7 deficient zebrafish showed a strong reduction in bone mineralization (PMID: 29878199). This gene should be considered for diagnostic analysis when AI is accompanied by growth and bone defects. Note that no non-syndromic patients have been reported to date (May 2019) with AI in isolation with variants in this gene.
Created: 13 May 2019, 12:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM: 618363 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS); short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; scoliosis

Publications

Ellen McDonagh (Genomics England Curator)

PMID: 30082715 reports five different SLC10A7 variants in four patients from four unrelated families and two patients from two distantly related families. The study states that the variants segregated according to a recessive mode of inheritance, however the genotype was not shown on the pedigree diagram. Further evidence was provided in a knockout mouse model that displayed abnormal development of skeletal structures and teeth anomalies. This gene is not related to a disease in OMIM or Gene2Phenotype.
Sources: Literature
Created: 11 Oct 2018, 12:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
skeletal dysplasia and amelogenesis imperfecta

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • skeletal dysplasia and amelogenesis imperfecta
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363
  • short stature
  • amelogenesis imperfect hypo mineralised
  • skeletal dysplasia
  • scoliosis
OMIM
611459
Clinvar variants
Variants in SLC10A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SLC10A7 were changed from skeletal dysplasia and amelogenesis imperfecta to skeletal dysplasia and amelogenesis imperfecta; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; scoliosis

15 May 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SLC10A7 were set to 30082715

15 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

11 Oct 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SLC10A7 was added gene: SLC10A7 was added to Amelogenesis Imperfecta. Sources: 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