KIAA1161

myogenesis regulating glycosidase (putative)
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber KIAA1161 in White matter disorders and cerebral calcification - narrow panel


Version 1.241
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
    Tags
    • new-gene-name
    • Q2_21_rating
    • gene-checked

    Green KIAA1161 in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.32

    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 1.34

    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 Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    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 movement disorder


    Version 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    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