PanelApp
  1. Genes and Genomic Entities
  2. AFG2B

AFG2B

AAA ATPase AFG2B
OMIM: 619578, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green AFG2B in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616

Green AFG2B in Mendeliome


Version 2.10

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
  • Deafness, autosomal recessive 119, MIM# 619615

Green AFG2B in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616

Green AFG2B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616

    Green AFG2B in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
    • Deafness, autosomal recessive 119, MIM# 619615

    Green AFG2B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616

    Green AFG2B in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616