Intracerebral calcification disordersGene: KIAA1161
Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Created: 2 Apr 2019, 9:47 a.m.
Comment on publications: added further 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: 2 Apr 2019, 9:46 a.m.
Comment on phenotypes: added OMIM phenotype
Created: 2 Apr 2019, 9:40 a.m.
added new-gene-name tag, new approved HGNC gene symbol for KIAA1161 is MYORG
Created: 2 Apr 2019, 9:38 a.m.
Yao et al (2018) identified 9 biallelic mutations in MYORG in 6 families with autosomal recessive Primary Familial Brain Calcification (PFBC) that co-segregated completely with the disease. MYORG mutations accounted for 46% of PFBC families with recessive mode of inheritance. No mutations were found in 1000 healthy controls. In a KO mouse model, brain calcium phosphate deposits could be observed. In a more recent study, Chen et al (2018) also identified 4 biallelic mutations segregating in 4 autosomal recessive PFBC families.
Created: 10 Jan 2019, 4:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Primary Familial Brain Calcification
Publications for gene: KIAA1161 were set to 29910000; 30589467; 30656188; 30649222
Gene: kiaa1161 has been classified as Green List (High Evidence).
Publications for gene: KIAA1161 were set to 29910000; 30589467
Phenotypes for gene: KIAA1161 were changed from Primary Familial Brain Calcification to Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317
Publications for gene: KIAA1161 were set to PMID: 29910000; 30589467
Tag new-gene-name tag was added to gene: KIAA1161.
gene: KIAA1161 was added gene: KIAA1161 was added to Intracerebral calcification disorders. Sources: Literature Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1161 were set to PMID: 29910000; 30589467 Phenotypes for gene: KIAA1161 were set to Primary Familial Brain Calcification Penetrance for gene: KIAA1161 were set to unknown Review for gene: KIAA1161 was set to GREEN