Adult onset neurodegenerative disorder
Gene: KIAA1161
Now MYORG gene. Adult onset (range twenties to fifties)Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal Recessive Primary Familial Brain Calcification
Publications
As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
added new-gene-name tag, new approved HGNC gene symbol for KIAA1161 is MYORGCreated: 9 May 2019, 3:56 p.m.
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Tag gene-checked tag was added to gene: KIAA1161.
Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317 to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317
Phenotypes for gene: KIAA1161 were changed from to Autosomal Recessive Primary Familial Brain Calcification
Mode of inheritance for gene: KIAA1161 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene KIAA1161 were changed from to 30656188; 29910000
Source Yorkshire and North East GLH was added to KIAA1161.
Tag new-gene-name tag was added to gene: KIAA1161.
Gene: kiaa1161 has been classified as Green List (High Evidence).
Source NHS GMS was added to KIAA1161.
gene: KIAA1161 was added gene: KIAA1161 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH Mode of inheritance for gene: KIAA1161 was set to