Amelogenesis imperfecta

Gene: SLC13A5

Green List (high evidence)

SLC13A5 (solute carrier family 13 member 5)
EnsemblGeneIds (GRCh38): ENSG00000141485
EnsemblGeneIds (GRCh37): ENSG00000141485
OMIM: 608305, Gene2Phenotype
SLC13A5 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P for Epileptic encephalopathy, early infantile, 25 615905 (not relevant to this panel. At least 8variants reported in 7 cases of Kohlschütter-Tönz syndrome, with appropriate dental features.
8 Jan 2018, 12:33 p.m.

Claire Smith (University of Leeds)

Green List (high evidence)

Biallelic mutations in SLC13A5 cause Kohlschütter-Tönz syndrome, which includes epilepsy (usually starts in the first year of life and is often difficult to treat). The most severely affected individuals have profound intellectual disability, never acquire speech and become bedridden early in life. Clinical and laboratory signs are not specific in the disease, except for dental findings; therefore, the latter are essential for the clinical diagnosis of KTZS. All affected individuals show variable yellow-to-brown discolouration of primary as well as permanent teeth right from eruption. At least 8 variants in SLC13A5 have been reported to date in KTS with additional variants reported in patients with a diagnosis of autosomal-recessive early infantile epileptic encephalopathy (EIEE25, OMIM 615905) who also display variable teeth hypoplasia and/or hypodontia.
17 Nov 2017, 1:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
amelogenesis imperfecta (hypoplastic); Kohlschütter-Tönz syndrome; Epileptic encephalopathy, early infantile, 25 OMIM 615905

Publications

Rebecca Foulger (Genomics England curator)

Kohlschütter-Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It is frequently caused by biallelic mutations in ROGDI but PMID:27600704 (2017) report on KTZS individuals carrying biallelic SLC13A5 mutations.
12 Jun 2017, 9:10 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kohlschütter-Tönz syndrome(KTZS)
  • hypoplastic amelogenesis imperfecta
  • Epileptic encephalopathy, early infantile, 25 615905
OMIM
608305
Clinvar variants
Variants in SLC13A5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

8 Jan 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jan 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC13A5 were set to Kohlschütter-Tönz syndrome(KTZS); hypoplastic amelogenesis imperfecta; Epileptic encephalopathy, early infantile, 25 615905

8 Jan 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC13A5 were set to Kohlschütter-Tönz syndrome(KTZS); hypoplastic amelogenesis imperfecta; Epileptic encephalopathy, early infantile, 25 OMIM 615905

8 Jan 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jan 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC13A5 were set to 27600704; 26384929; 24995870; 27261973

12 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SLC13A5 was created by rfoulger

12 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SLC13A5 was added to Amelogenesis Imperfectapanel. Sources: Literature