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Mendeliome

Gene: KIAA1161

Green List (high evidence)

KIAA1161 (myogenesis regulating glycosidase (putative))
EnsemblGeneIds (GRCh38): ENSG00000164976
EnsemblGeneIds (GRCh37): ENSG00000164976
KIAA1161 is in 4 panels

2 reviews

Hazel Phillimore (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene name has been updated from KIA1161 to MYORG.
Homozygous and compound heterozygous of 9 different variants (missense, nonsense, insertion, deletions) found in the MYORG gene in 12 patients with basal ganglia calcifications from 6 unrelated Chinese families. Mouse knockout was generated, which showed brain calcifications. (Yao, XP. et al. (2018) PMID: 29910000).
French study: Homozygous and compound heterozygous variants in 11 unrelated families with PFBC. (6 sporadic cases and 5 families with 2 or 3 affected siblings). The authors conclude this gene causes a specific recognisable phenotype: initial dysarthria followed by cerebellar and pyramidal syndromes with akinetic-hypertonic syndrome; (ii) extensive calcifications encompassing the brainstem and more specifically the pons; and (iii) cerebellar atrophy. High clinical penetrance. Note: 3 of the fathers of the probands displayed non-diffuse calcifications, suggestive of a semi-dominant inheritance pattern with incomplete penetrance. (Grangeon L. et al. (2019) ; PMID: 31009047).
Created: 23 Apr 2020, 9:03 a.m. | Last Modified: 23 Apr 2020, 9:03 a.m.
Panel Version: 0.2602

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Basal ganglia calcification, idiopathic, 7, autosomal recessive (OMIM #618317); primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 11:48 p.m. | Last Modified: 22 Sep 2020, 11:48 p.m.
Panel Version: 0.4548
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: Literature
Created: 14 Jan 2020, 7:26 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Basal ganglia calcification, idiopathic, 7, MIM #618317
  • primary familial brain calcifications (PFBC)
  • ataxia
  • dysarthria
  • cerebellar atrophy
  • akinetic-hypertonic syndrome
Tags
new gene name
Clinvar variants
Variants in KIAA1161
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome to Basal ganglia calcification, idiopathic, 7, MIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome

22 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31009047

22 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIAA1161 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Sep 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: KIAA1161.

23 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317 to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome

23 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa1161 has been classified as Green List (High Evidence).

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa1161 has been classified as Green List (High Evidence).

14 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIAA1161 was added gene: KIAA1161 was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1161 were set to 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