Adult onset dystonia, chorea or related movement disorder
Gene: KIAA1161EnsemblGeneIds (GRCh38): ENSG00000164976
EnsemblGeneIds (GRCh37): ENSG00000164976
KIAA1161 is in 5 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on list classification: Appropriate phenotype, sufficient cases all support gene-disease association and relevance to this panel to rate gene to Green. Adult onset (range twenties to fifties)Created: 4 Sep 2019, 9:38 a.m. | Last Modified: 4 Sep 2019, 9:41 a.m.
Panel Version: 0.105
Publications to support green rating. Arkadir et al. (2019) PMID: 30656188 reported 2 unrelated families of Middle Eastern origin with IBGC7 (Basal ganglia cancification, idiopathic, 7). Forouhideh et al. (2019) PMID: 30649222 reported 4 sibs, born of consanguineous Turkish parents, with IBGC7.Created: 4 Sep 2019, 9:36 a.m. | Last Modified: 4 Sep 2019, 9:36 a.m.
Panel Version: 0.103
added new-gene-name tag, new approved HGNC gene symbol for KIAA1161 is MYORGCreated: 3 Sep 2019, 1:09 p.m. | Last Modified: 3 Sep 2019, 1:09 p.m.
Panel Version: 0.102
Sources: Expert ReviewCreated: 3 Sep 2019, 1:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive; Abnormal movements; Dystonia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
- Tags
- Clinvar variants
- Variants in KIAA1161
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: KIAA1161.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive; Abnormal movements; Dystonia to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive; Abnormal movements; Dystonia
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: kiaa1161 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: KIAA1161.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: KIAA1161 was added gene: KIAA1161 was added to Adult onset movement disorder. Sources: Expert Review Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1161 were set to 29910000; 30589467; 30656188; 30649222; 31009047 Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive Review for gene: KIAA1161 was set to GREEN