PanelApp
  1. Genes and Genomic Entities
  2. TBC1D20

TBC1D20

TBC1 domain family member 20
OMIM: 611663, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green TBC1D20 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.50

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 4, MIM# 615663

Red TBC1D20 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.99

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Warburg micro syndrome 4, MIM# 615663

    Green TBC1D20 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Warburg micro syndrome 4, MIM# 615663
    • Martsolf syndrome

    Green TBC1D20 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.357

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Warburg micro syndrome 4, MIM# 615663

    Amber TBC1D20 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Warburg micro syndrome 4, MIM#615663

    Green TBC1D20 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

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

    Green TBC1D20 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Warburg micro syndrome 4
    • OMIM #615663

    Red TBC1D20 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Warburg micro syndrome 4, MIM# 615663
    • Martsolf syndrome

    Green TBC1D20 in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Warburg micro syndrome 4, MIM# 615663

    Green TBC1D20 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Martsolf syndrome
    • Warburg micro syndrome 4, MIM# 615663