SPATA7

spermatogenesis associated 7
OMIM: 609868, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red SPATA7 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red SPATA7 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review Not set
Sources
  • Emory Genetics Laboratory
Red SPATA7 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Red SPATA7 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Green SPATA7 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Leber congenital amaurosis 3
    • Retinitis pigmentosa, juvenile, autosomal recessive
    • Leber Congenital Amaurosis
    • Leber congenital amaurosis 3, 604232
    • Retinitis pigmentosa, juvenile, autosomal recessive
    • Eye Disorders
    • Leber congenital amaurosis 3, 604232Retinitis pigmentosa, juvenile, autosomal recessive, 604232
    • Retinitis Pigmentosa, Recessive
    • Retinitis pigmentosa
    Red SPATA7 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa, juvenile, autosomal recessive, 604232
    • Leber congenital amaurosis 3, 604232
    • Eye Disorders
    Red SPATA7 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.171

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Leber congenital amaurosis 3, 604232
    • Retinitis pigmentosa, juvenile, autosomal recessive, 604232
    • Ciliopathies
    Red SPATA7 in Ophthalmological ciliopathies


    Version 3.6
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Leber congenital amaurosis 3, 604232
    • Ciliopathies
    • Retinitis pigmentosa, juvenile, autosomal recessive, 604232