1. Genes and Genomic Entities
  2. KIAA1161

KIAA1161

myogenesis regulating glycosidase (putative)
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green KIAA1161 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.19
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
    Tags
    • gene-checked
    • new-gene-name
    Green KIAA1161 in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    		review 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
    • gene-checked
    Green KIAA1161 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Primary Familial Brain Calcification
    • Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317
    Tags
    • new-gene-name
    • gene-checked
    Green KIAA1161 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.20
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
    Tags
    • new-gene-name
    • gene-checked
    Green KIAA1161 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
    Tags
    • new-gene-name
    • gene-checked