PanelApp
  1. Genes and Genomic Entities
  2. SPATA7

SPATA7

spermatogenesis associated 7
OMIM: 609868, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SPATA7 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 3, MIM#604232
  • Autosomal recessive juvenile retinitis pigmentosa, MIM#604232

Green SPATA7 in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.182

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leber Congenital Amaurosis
    • Retinitis pigmentosa, juvenile, autosomal recessive, 604232
    • Leber congenital amaurosis 3

    Green SPATA7 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 3, 604232 (3)

    Green SPATA7 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 3, MIM# 604232

    Green SPATA7 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 3, MIM #604232
    • Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232