Neurodegeneration with brain iron accumulation
Gene: GTPBP2EnsemblGeneIds (GRCh38): ENSG00000172432
EnsemblGeneIds (GRCh37): ENSG00000172432
OMIM: 607434, Gene2Phenotype
GTPBP2 is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
MRI findings suggestive of iron deposition reported in some but not all patients.Created: 15 Mar 2023, 9:42 a.m. | Last Modified: 15 Mar 2023, 9:42 a.m.
Panel Version: 0.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, MIM# 617988
Shekeeb Mohammad (Children's Hospital at Westmead)
Sources: LiteratureCreated: 14 Mar 2023, 3:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
dystonia; ataxia; cognitive dysfunction; motor neuropathy; retinal abnormalities; sparse thin and brittle hair
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Jaberi-Elahi syndrome, MIM# 617988
- OMIM
- 607434
- Clinvar variants
- Variants in GTPBP2
- 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: gtpbp2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GTPBP2 were changed from dystonia; ataxia; cognitive dysfunction; motor neuropathy; retinal abnormalities; sparse thin and brittle hair to Jaberi-Elahi syndrome, MIM# 617988
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gtpbp2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Shekeeb Mohammad (Children's Hospital at Westmead)gene: GTPBP2 was added gene: GTPBP2 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 26675814; 29449720 Phenotypes for gene: GTPBP2 were set to dystonia; ataxia; cognitive dysfunction; motor neuropathy; retinal abnormalities; sparse thin and brittle hair Review for gene: GTPBP2 was set to GREEN gene: GTPBP2 was marked as current diagnostic