Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: TRNT1
TRNT1 (tRNA nucleotidyl transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Retinitis pigmentosa and erythrocytic microcytosis
- OMIM
- 612907
- Clinvar variants
- Variants in TRNT1
- Penetrance
- None
- Panels with this gene
-
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Common Variable Immunodeficiency
- Red cell disorders
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Mitochondrial disease
- Syndromic Retinopathy
- Intellectual disability syndromic and non-syndromic
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TRNT1 was added gene: TRNT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis