Mirror movements
Gene: NTN1EnsemblGeneIds (GRCh38): ENSG00000065320
EnsemblGeneIds (GRCh37): ENSG00000065320
OMIM: 601614, Gene2Phenotype
NTN1 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two unrelated families and an unrelated proband with mirror movements. Also, a mouse model recapitulates the human phenotype.
Sources: Expert listCreated: 1 Sep 2021, 11:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mirror movements 4 MIM#618264
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 Green
- Expert list
- Phenotypes
-
- Mirror movements 4 MIM#618264
- OMIM
- 601614
- Clinvar variants
- Variants in NTN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ntn1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ntn1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NTN1 was added gene: NTN1 was added to Mirror movements. Sources: Expert list Mode of inheritance for gene: NTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NTN1 were set to 25763452; 28945198; 33472083 Phenotypes for gene: NTN1 were set to Mirror movements 4 MIM#618264 Review for gene: NTN1 was set to GREEN gene: NTN1 was marked as current diagnostic