PanelApp
  1. Genes and Genomic Entities
  2. GJA1

GJA1

gap junction protein alpha 1
OMIM: 121014, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green GJA1 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.50

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Oculodentodigital dysplasia, autosomal recessive, MIM# 257850
  • Oculodentodigital dysplasia, MIM# 164200

Green GJA1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.99

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculodentodigital dysplasia, MIM# 164200

    Red GJA1 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.375

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Oculodentodigital dysplasia, autosomal recessive, MIM# 257850

    Green GJA1 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.474

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GJA1 in Lymphoedema_nonsyndromic


    Level 2: Cardiovascular disorders
    Version 0.44

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GJA1 in Mendeliome


    Version 1.3512

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Oculodentodigital dysplasia, autosomal recessive, MIM# 257850
    • Oculodentodigital dysplasia, MIM# 164200

    Green GJA1 in Palmoplantar Keratoderma and Erythrokeratoderma


    Level 2: Dermatological disorders
    Version 0.136

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100)
    • Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)

    Red GJA1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Atrioventricular septal defect 3, MIM#600309
    • Craniometaphyseal dysplasia, autosomal recessive, MIM#218400
    • Erythrokeratodermia variabilis et progressiva 3, MIM#617525
    • Hypoplastic left heart syndrome 1, MIM#241550
    • Oculodentodigital dysplasia, MIM#164200
    • Oculodentodigital dysplasia, autosomal recessive, MIM#257850
    • Palmoplantar keratoderma with congenital alopecia, MIM#104100
    • Syndactyly, type III, MIM# 186100

    Green GJA1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

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

    Green GJA1 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.151

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Hereditary spastic paraplegia
    • Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850

    Green GJA1 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.15

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hereditary spastic paraplegia
    • Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850

    Green GJA1 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

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

    Green GJA1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypoplastic left heart syndrome 1, 241550 (3)

    Green GJA1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Oculodentodigital dysplasia

    Green GJA1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		0 reviews 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 Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review Unknown
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Inflammatory linear verrucous epidermal naevus (ILVEN)

    Green GJA1 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.78

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Hypoplastic left heart syndrome 1 241550
    • Syndactyly, type III 186100
    • Oculodentodigital dysplasia 164200
    • Palmoplantar keratoderma with congenital alopecia 104100
    • Craniometaphyseal dysplasia, autosomal recessive 218400
    • Erythrokeratodermia variabilis et progressiva 133200
    • Oculodentodigital dysplasia, autosomal recessive 257850

    Green GJA1 in Fetal anomalies


    Version 1.465

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Atrioventricular septal defect 3, MIM#600309
    • Craniometaphyseal dysplasia, autosomal recessive, MIM#218400
    • Hypoplastic left heart syndrome 1, MIM#241550
    • Oculodentodigital dysplasia, MIM#164200
    • Oculodentodigital dysplasia, autosomal recessive, MIM#257850
    • Syndactyly, type III, MIM# 186100

    Green GJA1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Craniometaphyseal dysplasia, autosomal recessive MIM#218400
    • Oculodentodigital dysplasia, autosomal recessive MIM#257850

    Red GJA1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Oculodentodigital dysplasia, autosomal recessive, MIM# 257850
    • Oculodentodigital dysplasia, MIM# 164200