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White matter disorders and cerebral calcification - narrow panel v2.9 KIAA1161 Sarah Leigh Tag Q2_21_rating was removed from gene: KIAA1161.
White matter disorders and cerebral calcification - narrow panel v2.9 KIAA1161 Sarah Leigh reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - narrow panel v2.8 KIAA1161 Sarah Leigh Source NHS GMS was added to KIAA1161.
Source Expert Review Green was added to KIAA1161.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v1.236 KIAA1161 Eleanor Williams Tag gene-checked tag was added to gene: KIAA1161.
White matter disorders and cerebral calcification - narrow panel v1.186 KIAA1161 Ivone Leong Classified gene: KIAA1161 as Amber List (moderate evidence)
White matter disorders and cerebral calcification - narrow panel v1.186 KIAA1161 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
White matter disorders and cerebral calcification - narrow panel v1.186 KIAA1161 Ivone Leong Gene: kiaa1161 has been classified as Amber List (Moderate Evidence).
White matter disorders and cerebral calcification - narrow panel v1.185 KIAA1161 Ivone Leong Tag Q2_21_rating tag was added to gene: KIAA1161.
White matter disorders and cerebral calcification - narrow panel v1.185 KIAA1161 Ivone Leong Added comment: Comment on mode of inheritance: MOI has been changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "Biallelic, autosomal or pseudoautosomal" after consulting the Genomics England Clinical Team. As not all carriers exhibit the phenotype and the age of for the carriers that do exhibit the phenotype is not appropriate for this panel. Therefore the Biallelic MOI was assigned.
White matter disorders and cerebral calcification - narrow panel v1.185 KIAA1161 Ivone Leong Mode of inheritance for gene: KIAA1161 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel v1.184 KIAA1161 Ivone Leong Added comment: Comment on publications: PMID: 31951047 - "89.5% (34 of 38) of individuals with heterozygous mutations remained asymptomatic at the time of examination and 4 of them exhibited symptoms with uncertain clinical significance (nonspecific depression, epilepsy, and late‐onset parkinsonism)". Age at CT scans range from 28-84. "brain calcifications of varying severity, from mild calcifications limited to the basal ganglia that were hard to differentiate from physiological calcifications to diffuse and moderate calcium deposits".

PMID: 30656188 - 2 families, carriers were all asymptomatic. Family 1 had no calcifications/no information. Family 2, 3/4 carriers had symmetrical punctuate calcification limited to the globus pallidus. The carriers were scanned <40yo.

PMID: 30895394 - proband's father (carrier) had diffuse bilateral cerebral calcifications with no symptoms other than very mild postural tremor. Scan age 68.

PMID: 31009047 - 3 families. Fathers of all probands were carriers. 2 had lenticulo-cerebellar calcifications - one of these 2 carriers had depression and cognitive impairment (age unknown), the other carrier was asymptomatic and was 65 yo when scan was done. 3rd father had calcifications restricted to the lenticular nuclei and was asymptomatic (age unknown).
White matter disorders and cerebral calcification - narrow panel v1.184 KIAA1161 Ivone Leong Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31951047; 33958240; 31440850
White matter disorders and cerebral calcification - narrow panel v1.92 KIAA1161 Ivone Leong Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31951047; 33958240, 30649222
White matter disorders and cerebral calcification - narrow panel v1.91 KIAA1161 Ivone Leong Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31951047
White matter disorders and cerebral calcification - narrow panel v1.89 KIAA1161 Ivone Leong Phenotypes for gene: KIAA1161 were changed from to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
White matter disorders and cerebral calcification - narrow panel v1.88 KIAA1161 Ivone Leong commented on gene: KIAA1161
White matter disorders and cerebral calcification - narrow panel v1.88 KIAA1161 Ivone Leong Tag new-gene-name tag was added to gene: KIAA1161.
White matter disorders and cerebral calcification - narrow panel v1.16 KIAA1161 Zornitza Stark gene: KIAA1161 was added
gene: KIAA1161 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31951047
Review for gene: KIAA1161 was set to GREEN
Added comment: PMID 31951047: 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.

Note additional publications supporting association with bi-allelic variants.
Sources: Literature