PanelApp (staging)
  1. Genes and Genomic Entities
  2. SPTBN4

SPTBN4

spectrin beta, non-erythrocytic 4
OMIM: 606214, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SPTBN4 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519)

Green SPTBN4 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
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519

    Green SPTBN4 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.210

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519

    Green SPTBN4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519

    Green SPTBN4 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519

    Green SPTBN4 in Auditory Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519
    • Syndromic auditory neuropathy spectrum disorder