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  3. KIAA1161
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Paroxysmal Dyskinesia

Gene: KIAA1161

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

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Dyskinesia can be provoked by quick movement (Kinesigenic) or by Hyperventilation
Patients can present with acute hemiplegia
Created: 2 Nov 2023, 3:37 a.m. | Last Modified: 2 Nov 2023, 3:37 a.m.
Panel Version: 0.125
Sources: Literature
Created: 15 Sep 2023, 4:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
paroxysmal kinesigenic dyskinesia; brain calcification; episodic hemiparesis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Sep 2023, 4:58 a.m.

Panel version: 0.125

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317
  • paroxysmal dyskinesia
  • brain calcification
  • episodic hemiparesis
Clinvar variants
Variants in KIAA1161
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Sep 2023, 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).

18 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIAA1161 were changed from paroxysmal dyskinesia; brain calcification; episodic hemiparesis to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317; paroxysmal dyskinesia; brain calcification; episodic hemiparesis

18 Sep 2023, 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).

15 Sep 2023, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: KIAA1161 was added gene: KIAA1161 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1161 were set to 34346093; 34783389; 32303062 Phenotypes for gene: KIAA1161 were set to paroxysmal dyskinesia; brain calcification; episodic hemiparesis Penetrance for gene: KIAA1161 were set to Complete Review for gene: KIAA1161 was set to GREEN gene: KIAA1161 was marked as current diagnostic