PanelApp (staging)
  1. Genes and Genomic Entities
  2. KIAA1109

KIAA1109

KIAA1109
OMIM: 611565, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green KIAA1109 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alkuraya-Kucinskas syndrome, MIM# 617822

Green KIAA1109 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alkuraya-Kucinskas syndrome, MIM# 617822

Red KIAA1109 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Alkuraya-Kucinskas syndrome, MIM#617822

Green KIAA1109 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KIAA1109 in Mendeliome


Version 1.2302

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alkuraya-Kucinskas syndrome, MIM# 617822

Green KIAA1109 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • lkuraya-Kucinskas syndrome, MIM# 617822

    Green KIAA1109 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Alkuraya-Kucinskas syndrome, MIM# 617822

    Green KIAA1109 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive

    Green KIAA1109 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Alkuraya-Kucinskas syndrome MIM#617822

    Green KIAA1109 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive