GJA8

gap junction protein alpha 8
OMIM: 600897, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GJA8 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.85
Latest signed off version: v2.76 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cataract-Microcornea Syndrome
  • Cataract 1, multiple types, 116200
  • CATARACT-MICROCORNEA SYNDROME
  • CATARACT ZONULAR PULVERULENT TYPE 1
  • Cataract 1, multiple types

Red GJA8 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cataract-Microcornea Syndrome

Green GJA8 in Fetal anomalies


Version 1.728
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT-MICROCORNEA SYNDROME
  • CATARACT ZONULAR PULVERULENT TYPE 1

Green GJA8 in DDG2P


Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CATARACT ZONULAR PULVERULENT TYPE 1 116200
    • CATARACT-MICROCORNEA SYNDROME 116150

    Red GJA8 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Cataract 1, multiple types, 116200

    Green GJA8 in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Cataract 1, multiple types, 116200

    Green GJA8 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cataract 1, multiple types, 116200