Structural basal ganglia disorders

Gene: KIAA1161

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Appropriate phenotype, sufficient cases all support gene-disease association and relevance to this panel to rate gene to Green.
Created: 4 Sep 2019, 9:38 a.m. | Last Modified: 4 Sep 2019, 9:38 a.m.
Panel Version: 1.16
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: 4 Sep 2019, 9:36 a.m. | Last Modified: 4 Sep 2019, 9:36 a.m.
Panel Version: 1.15
added new-gene-name tag, new approved HGNC gene symbol for KIAA1161 is MYORG
Created: 3 Sep 2019, 1:10 p.m. | Last Modified: 3 Sep 2019, 1:10 p.m.
Panel Version: 1.14
Sources: Expert Review
Created: 3 Sep 2019, 1:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive; Calcifications in the basal ganglia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Autosomal Recessive Primary Familial Brain Calcification
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive
  • Calcifications in the basal ganglia
Tags
new-gene-name
Clinvar variants
Variants in KIAA1161
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive; Calcifications in the basal ganglia

4 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

3 Sep 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive

3 Sep 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: KIAA1161 was added gene: KIAA1161 was added to Structural basal ganglia disorders. Sources: Expert Review new-gene-name tags were added to gene: KIAA1161. Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1161 were set to 29910000; 30589467; 30656188; 30649222; 31009047 Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive Review for gene: KIAA1161 was set to GREEN