SPATA5

spermatogenesis associated 5
OMIM: 613940, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green SPATA5 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577
Tags
  • new gene name

Green SPATA5 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577
Tags
  • new gene name

Green SPATA5 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Tags
  • new gene name

Green SPATA5 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577
    Tags
    • new gene name

    Green SPATA5 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
    Tags
    • new gene name

    Green SPATA5 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.213

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577
    Tags
    • new gene name

    Green SPATA5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577
    Tags
    • new gene name

    Green SPATA5 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive

    Green SPATA5 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Genetic Health Queensland
    Phenotypes
    • Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
    Tags
    • new gene name

    Green SPATA5 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
    Tags
    • new gene name

    Green SPATA5 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
    Tags
    • new gene name