MYO7A

myosin VIIA
OMIM: 276903, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red MYO7A 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 MYO7A in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.19

review Not set
Sources
  • Emory Genetics Laboratory
Red MYO7A in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.41

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Red MYO7A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Red MYO7A in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • DEAFNESS AUTOSOMAL RECESSIVE TYPE 2
    • USHER SYNDROME TYPE 1B
    Green MYO7A in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • USHER SYNDROME TYPE 1B 276900
    • DEAFNESS AUTOSOMAL RECESSIVE TYPE 2 600060
    Green MYO7A in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.25
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Deafness, autosomal dominant 11, OMIM:601317
    • Deafness, autosomal recessive 2, OMIM:600060
    • Usher syndrome, type 1B, OMIM:276900
    Red MYO7A in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype both DD and IF gene with ID HPO
    Green MYO7A in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Usher syndrome, type 1B, OMIM:276900
    Red MYO7A in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Deafness, autosomal recessive 2
    • Usher syndrome, type 1B, 276900
    • Deafness, autosomal dominant 11, 601317
    • Eye Disorders
    Red MYO7A in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.169

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies
    Green MYO7A in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Usher syndrome, type 1B, 276900
    • Deafness, autosomal dominant 11, 601317
    • Deafness, autosomal recessive 2, 600060