PanelApp
  1. Genes and Genomic Entities
  2. PIP5K1C

PIP5K1C

phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
OMIM: 606102, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green PIP5K1C in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lethal congenital contractural syndrome 3, MIM# 611369

    Green PIP5K1C in Mendeliome


    Version 1.3512

    		3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
    • Lethal congenital contractural syndrome 3, MIM# 611369

    Green PIP5K1C in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.357

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related

    Green PIP5K1C in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Lethal congenital contractural syndrome 3, MIM# 611369

    Green PIP5K1C in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related

    Green PIP5K1C in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), PIP5K1C-related

    Red PIP5K1C in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Lethal congenital contractural syndrome 3, 611369 (3)

    Green PIP5K1C in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Lethal congenital contractural syndrome 3 - #611369

    Amber PIP5K1C in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Mackenzie's Mission
    Phenotypes
    • Lethal congenital contractural syndrome 3, 611369 (3)