Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: ROGDI

Green List (high evidence)

ROGDI (rogdi homolog)
EnsemblGeneIds (GRCh38): ENSG00000067836
EnsemblGeneIds (GRCh37): ENSG00000067836
OMIM: 614574, Gene2Phenotype
ROGDI is in 8 panels

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

ROGD1, HGNC:29478. From OMIM; Biallelic variants causes Kohlschutter-Tonz syndrome (KTZS), a rare autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. More than 5 unrelated families reported. PMID:23086778 (2013) outlines 20 families reported.
Created: 4 Feb 2025, 3:46 a.m. | Last Modified: 4 Feb 2025, 3:46 a.m.
Panel Version: 1.1397

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
  • Mackenzie's Mission
Phenotypes
  • Kohlschutter-Tonz syndrome MIM#226750
OMIM
614574
Clinvar variants
Variants in ROGDI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ROGDI were changed from Kohlschutter-Tonz syndrome, 226750 (3) to Kohlschutter-Tonz syndrome MIM#226750

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ROGDI were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ROGDI was added gene: ROGDI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, 226750 (3)