Amelogenesis imperfecta
Gene: ROGDIEnsemblGeneIds (GRCh38): ENSG00000067836
EnsemblGeneIds (GRCh37): ENSG00000067836
OMIM: 614574, Gene2Phenotype
ROGDI is in 8 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
Schossig et al. (PMID: 22424600) reported biallelic variants in three families with Kohlschütter-Tönz syndrome (KTS), characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. Premature termination codon (frameshift and nonsense) and splice site variants were reported.
Aswath et al. (PMID: 29153277) reported a homozygous nonsense mutation in a 14 year old patient with consanguineous parents, presenting with KTS.
Huckert et al. (PMID: 25565929) reported a homozygous splice variant in a 13 year old female patient with consanguineous parents, presenting with KTS.Created: 16 Jun 2021, 12:56 a.m. | Last Modified: 16 Jun 2021, 12:56 a.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kohlschutter-Tonz syndrome MIM #226750
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Kohlschutter-Tonz syndrome MIM #226750
- Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
- OMIM
- 614574
- Clinvar variants
- Variants in ROGDI
- 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: rogdi has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ROGDI were changed from Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth); Kohlschutter-Tonz syndrome, 226750 to Kohlschutter-Tonz syndrome MIM #226750; Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ROGDI was added gene: ROGDI was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROGDI were set to 22482807; 28651123; 3236364; 22424600; 25565929; 23086778 Phenotypes for gene: ROGDI were set to Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth); Kohlschutter-Tonz syndrome, 226750