Brain Calcification
Gene: KIAA1161
In a cohort study comprising 435 individuals with primary brain calcification, 38 individuals identified with mono-allelic variants in this gene, in addition to 14 with bi-allelic variants. Clinical and imaging penetrance of individuals with bi-allelic variants were 100%, whereas among individuals with heterozygous variants, penetrance of imaging phenotype was reduced to 73.7% (28 of 38) and clinical penetrance was much lower. Most (34 of 38) remained asymptomatic whereas 4 had symptoms of uncertain clinical significance (nonspecific depression, epilepsy and late-onset parkinsonism). Compared with individuals with biallelic MYORG variants, individuals with heterozygous variants had brain calcifications with much lower calcification scores (P < 2e-16).
HGNC approved name is MYORG.Created: 22 Sep 2020, 11:45 p.m. | Last Modified: 22 Sep 2020, 11:45 p.m.
Panel Version: 0.38
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 7, MIM#618317
Publications
Total 9 families, but no functional evidence:
12 patients from 6 unrelated Chinese families reported by Yao et al. (2018) and homozygous or compound heterozygous mutations in the MYORG gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function.
1 Chinese woman identified with homozygous nonsense mutation in the MYORG gene, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.
2 unrelated Middle Eastern families with homozygous mutations in the MYORG gene, which segregated with the disorder in the families. Functional studies of the variants were not performed.
4 sibs from one Turkish family with homozygous missense mutation in the MYORG gene, which segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.
Sources: LiteratureCreated: 14 Jan 2020, 5:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317
Publications
Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317 to Basal ganglia calcification, idiopathic, 7, MIM#618317
Publications for gene: KIAA1161 were set to PubMed: 30656188, 30649222, 30460687, 29910000
Mode of inheritance for gene: KIAA1161 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag new gene name tag was added to gene: KIAA1161.
Gene: kiaa1161 has been classified as Green List (High Evidence).
Gene: kiaa1161 has been classified as Green List (High Evidence).
gene: KIAA1161 was added gene: KIAA1161 was added to Brain calcification_VCGS. Sources: Literature Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1161 were set to PubMed: 30656188, 30649222, 30460687, 29910000 Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317 Review for gene: KIAA1161 was set to GREEN