GJA1

gap junction protein alpha 1
OMIM: 121014, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

No list GJA1 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.2

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Palmoplantar keratoderma with congenital alopecia, 104100

Green GJA1 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.17

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Palmoplantar keratoderma with congenital alopecia, 104100
  • Erythrokeratodermia variabilis et progressiva 3, 617525
  • Erythrokeratoderma
  • Palmoplantar keratoderma
  • Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma
  • keratoderma, hypotrichosis and leukonychia

Amber GJA1 in Glaucoma (developmental)

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • GDL Glaucoma panel
Phenotypes
  • Oculodentodigital dysplasia
  • open angle glaucoma (OAG) and microcornea

Green GJA1 in Ichthyosis and erythrokeratoderma


Version 1.4
Signed off v.1.3 on 15 Oct 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • keratoderma, hypotrichosis and leukonychia
  • Palmoplantar keratoderma with congenital alopecia, 104100
  • Erythrokeratoderma
  • Erythrokeratodermia variabilis et progressiva 3, 617525
  • Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma
  • Palmoplantar keratoderma

Green GJA1 in White matter disorders and cerebral calcification - narrow panel


Version 1.20
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Oculodentodigital dysplasia, autosomal recessive 257850
    • Oculodentodigital dysplasia (AD) 164200

    Green GJA1 in Limb disorders


    Version 2.16
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Craniometaphyseal dysplasia, autosomal recessive 218400
    • Erythrokeratodermia variabilis et progressiva 133200
    • Hypoplastic left heart syndrome 1 241550
    • Oculodentodigital dysplasia 164200
    • Oculodentodigital dysplasia, autosomal recessive 257850
    • Palmoplantar keratoderma with congenital alopecia 104100
    • Syndactyly, type III 186100

    Green GJA1 in Palmoplantar keratodermas


    Version 1.4
    Signed off v.1.3 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Palmoplantar keratoderma

    Green GJA1 in Pigmentary skin disorders


    Version 1.5
    Signed off v.1.4 on 15 Oct 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525

    Red GJA1 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.17
    Signed off v.2.2 on 19 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Oculodentodigital Dysplasia

    Green GJA1 in Rare genetic inflammatory skin disorders


    Version 1.7
    Signed off v.1.6 on 15 Oct 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
    • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
    • EKVP3

    Green GJA1 in White matter disorders - adult onset


    Version 1.7
    Signed off v.1.6 on 15 Oct 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850

    Green GJA1 in Corneal abnormalities

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.7

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • GDL Corneal Abnormalities panel
    Phenotypes
    • Oculodentodigital dysplasia 164200
    • Oculodentodigital dysplasia, autosomal recessive 257850

    Green GJA1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.82

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Eligibility statement prior genetic testing
    • Other
    Phenotypes
    • Oculodentodigital dysplasia (AD) 164200
    • Oculodentodigital dysplasia, autosomal recessive 257850

    Red GJA1 in Familial non syndromic congenital heart disease

    Level 3: Congenital heart disease
    Level 2: Cardiovascular disorders
    Version 1.53

    review Not set
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hypoplastic left heart syndrome 1
    • Hypoplastic Left Heart Syndrome

    Green GJA1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.24
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Oculodentodigital dysplasia 164200
    • Syndactyly, type III 186100
    • Erythrokeratodermia variabilis et progressiva 133200
    • Palmoplantar keratoderma with congenital alopecia 104100
    • Oculodentodigital dysplasia, autosomal recessive 257850
    • Craniometaphyseal dysplasia, autosomal recessive 218400
    • Hypoplastic left heart syndrome 1 241550

    No list GJA1 in Hereditary spastic paraplegia - adult onset


    Version 1.13
    Signed off v.1.12 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Hereditary spastic paraplegia
    • Oculodentodigital dysplasia, MIM#164200

    Green GJA1 in Fetal anomalies


    Version 1.107
    Signed off v.1.92 on 21 Aug 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA
    • HYPOPLASTIC LEFT HEART SYNDROME
    • AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA
    • HALLERMANN-STREIFF SYNDROME

    Green GJA1 in DDG2P


    Version 2.10
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • HALLERMANN-STREIFF SYNDROME 234100
    • HYPOPLASTIC LEFT HEART SYNDROME 241550
    • AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200
    • AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850
    • SYNDACTYLY TYPE 3 186100
    Tags
    • watchlist

    Red GJA1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.96
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Expert

    Green GJA1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.5
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Oculodentodigital dysplasia,164200
    • ODDD

    Red GJA1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.494
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO

    Green GJA1 in Structural eye disease


    Version 1.12
    Signed off v.1.3 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • open angle glaucoma (OAG) and microcornea
    • Oculodentodigital dysplasia

    Green GJA1 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 2.6
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London South GLH
    • Expert list
    • Expert Review Green
    Phenotypes
    • Oculodentodigital dysplasia 164200

    Green GJA1 in Severe Paediatric Disorders


    Version 1.11

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculodentodigital dysplasia, autosomal recessive, 257850
    • Syndactyly, type III, 186100
    • Craniometaphyseal dysplasia, autosomal recessive, 218400
    • Palmoplantar keratoderma with congenital alopecia, 104100
    • Atrioventricular septal defect 3, 600309
    • Erythrokeratodermia variabilis et progressiva 3, 617525
    • Hypoplastic left heart syndrome 1, 241550
    • Oculodentodigital dysplasia, 164200