Amelogenesis imperfecta

Gene: ROGDI

Green List (high evidence)

ROGDI (rogdi homolog)
EnsemblGeneIds (GRCh38): ENSG00000067836
EnsemblGeneIds (GRCh37): ENSG00000067836
OMIM: 614574, Gene2Phenotype
ROGDI is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 8 variants reported in at least 7 unrelated cases.
8 Jan 2018, 11:47 a.m.

Claire Smith (University of Leeds)

Green List (high evidence)

This gene is currently on the Leeds AI diagnostic gene panel. This is available for NHS testing via Yorkshire Regional Genetics Service.

Biallelic mutations in ROGDI 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 12 variants in ROGDI have been reported to date. These include a whole gene deletion, splice site variants, missense and nonsense variants.
17 Nov 2017, 10:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
amelogenesis imperfecta (hypocalcified); Kohlschütter-Tönz syndrome

Publications

Rebecca Foulger (Genomics England curator)

Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta.
12 Jun 2017, 9:09 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Kohlschutter-Tonz syndrome, 226750
  • Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
OMIM
614574
Clinvar variants
Variants in ROGDI
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 publications

Sarah Leigh (Genomics England Curator)

Publications for ROGDI were set to 3236364; 23086778; 25565929; 22424600; 22482807; 28651123

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).

12 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ROGDI was created by rfoulger

12 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ROGDI was added to Amelogenesis Imperfectapanel. Sources: Other