1. Genes and Genomic Entities
  2. GJA1

GJA1

gap junction protein alpha 1
OMIM: 121014, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels
No list GJA1 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Tags
  • curated_removed
Green GJA1 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
  • Palmoplantar keratoderma with congenital alopecia, OMIM:104100
  • Oculodentodigital dysplasia, OMIM:164200
Amber GJA1 in Glaucoma (developmental)

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Amber
  • GDL Glaucoma panel
Phenotypes
  • Oculodentodigital dysplasia, OMIM:164200
Green GJA1 in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
  • Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Green GJA1 in White matter disorders and cerebral calcification - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Oculodentodigital dysplasia, OMIM:164200
    • Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
    Green GJA1 in Limb disorders


    Version 4.18
    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 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, OMIM:218400
    • Oculodentodigital dysplasia, OMIM:164200
    • Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
    • Syndactyly, type III, OMIM:186100
    Green GJA1 in Palmoplantar keratodermas


    Version 3.25
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
    • Palmoplantar keratoderma with congenital alopecia, OMIM:104100
    • Oculodentodigital dysplasia, OMIM:164200
    Green GJA1 in Pigmentary skin disorders


    Version 3.11
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
    • Palmoplantar keratoderma with congenital alopecia, OMIM:104100
    Red GJA1 in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Oculodentodigital dysplasia, OMIM:164200
    • Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
    Green GJA1 in Rare genetic inflammatory skin disorders


    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
    Green GJA1 in Adult onset leukodystrophy


    Version 3.24
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Oculodentodigital dysplasia, OMIM:164200
    • Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
    Green GJA1 in Corneal abnormalities

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.13

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • GDL Corneal Abnormalities panel
    Phenotypes
    • Oculodentodigital dysplasia, OMIM:164200
    • Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
    Green GJA1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Eligibility statement prior genetic testing
    • Other
    Phenotypes
    • Oculodentodigital dysplasia, OMIM:164200
    • Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
    Red GJA1 in Familial non syndromic congenital heart disease

    Level 3: Congenital heart disease
    Level 2: Cardiovascular disorders
    Version 1.80

    		review Not set
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hypoplastic left heart syndrome 1, OMIM:241550
    • Atrioventricular septal defect 3, OMIM:600309
    Green GJA1 in Childhood onset hereditary spastic paraplegia


    Version 4.42
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculodentodigital dysplasia, OMIM:164200
    • Spastic paraplegia
    Green GJA1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    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
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400
    • Oculodentodigital dysplasia, OMIM:164200
    • Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
    • Syndactyly, type III, OMIM:186100
    Green GJA1 in Adult onset hereditary spastic paraplegia


    Version 3.21
    Latest signed off version: v3.14 (31 Jul 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculodentodigital dysplasia, OMIM:164200
    • Spastic paraplegia
    Green GJA1 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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, OMIM:234100
    • SYNDACTYLY TYPE 3, OMIM:186100
    • AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200
    • HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550
    • AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850
    Red GJA1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Phenotypes
    • Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400
    Green GJA1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.108
    Latest signed off version: v4.0 (22 Mar 2023)

    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, OMIM:164200
    Red GJA1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

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

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Oculodentodigital dysplasia, OMIM:164200
    • Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
    Green GJA1 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 3.11
    Latest signed off version: v3.0 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London South GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculodentodigital dysplasia, OMIM:164200
    Green GJA1 in Severe Paediatric Disorders


    Version 1.184

    		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