Neurodegeneration with brain iron accumulation
Gene: THAP1EnsemblGeneIds (GRCh38): ENSG00000131931
EnsemblGeneIds (GRCh37): ENSG00000131931
OMIM: 609520, Gene2Phenotype
THAP1 is in 5 panels
1 review
Shekeeb Mohammad (Children's Hospital at Westmead)
3 published cases; 1 under clinical care with a pathogenic THAP1 variant.
Sources: LiteratureCreated: 14 Feb 2024, 2:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cervical dystonia; dystonia; dystonic tremor
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- cervical dystonia
- dystonia
- dystonic tremor
- OMIM
- 609520
- Clinvar variants
- Variants in THAP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: thap1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: thap1 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: THAP1 was added gene: THAP1 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THAP1 were set to 38094642; 33665847 Phenotypes for gene: THAP1 were set to cervical dystonia; dystonia; dystonic tremor Review for gene: THAP1 was set to GREEN gene: THAP1 was marked as current diagnostic