Adult onset dystonia, chorea or related movement disorder
Gene: KIAA1161
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
Tag gene-checked tag was added to gene: KIAA1161.
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
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
Gene: kiaa1161 has been classified as Green List (High Evidence).
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
Tag new-gene-name tag was added to gene: KIAA1161.
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