GJA1

gap junction protein alpha 1
OMIM: 121014, Gene2Phenotype

25 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 25 panels
No list GJA1 in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.6	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 1.35	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 1.47	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 Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) 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 Level 2: Musculoskeletal Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) 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 Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	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 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	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 Level 2: Dermatology Version 4.16 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	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 1.14	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 1.186	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Other Eligibility statement prior genetic testing Phenotypes Oculodentodigital dysplasia, OMIM:164200 Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Red GJA1 in Mosaic skin disorders - deep sequencing Level 2: Dermatology Version 3.27 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Phenotypes inflammatory linear verrucous epidermal nevus, MONDO:0019318
Red GJA1 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.90	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 Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	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 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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 Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) 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 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	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 2: Cardiology Version 4.21 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London South GLH Expert Review Green Expert list Phenotypes Oculodentodigital dysplasia, OMIM:164200

GJA1

25 panels

No list GJA1 in Familial cicatricial alopecia

Sources

Phenotypes

Tags

Green GJA1 in Palmoplantar keratoderma and erythrokeratodermas

Sources

Phenotypes

Amber GJA1 in Glaucoma (developmental)

Sources

Phenotypes

Green GJA1 in Ichthyosis and erythrokeratoderma

Sources

Phenotypes

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

Sources

Phenotypes

Green GJA1 in Limb disorders

Sources

Phenotypes

Green GJA1 in Palmoplantar keratodermas

Sources

Phenotypes

Green GJA1 in Pigmentary skin disorders

Sources

Phenotypes

Red GJA1 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green GJA1 in Rare genetic inflammatory skin disorders

Sources

Phenotypes

Green GJA1 in Adult onset leukodystrophy

Sources

Phenotypes

Green GJA1 in Corneal abnormalities

Sources

Phenotypes

Green GJA1 in Inherited white matter disorders

Sources

Phenotypes

Red GJA1 in Mosaic skin disorders - deep sequencing

Sources

Phenotypes

Red GJA1 in Familial non syndromic congenital heart disease

Sources

Phenotypes

Green GJA1 in Childhood onset hereditary spastic paraplegia

Sources

Phenotypes

Green GJA1 in Skeletal dysplasia

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Phenotypes

Green GJA1 in Adult onset hereditary spastic paraplegia

Sources

Phenotypes

Green GJA1 in Fetal anomalies

Sources

Phenotypes

Green GJA1 in DDG2P

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Phenotypes

Red GJA1 in Monogenic hearing loss

Sources

Phenotypes

Green GJA1 in Clefting

Sources

Phenotypes

Red GJA1 in Intellectual disability

Sources

Phenotypes

Green GJA1 in Structural eye disease

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Phenotypes

Green GJA1 in Primary lymphoedema

Sources

Phenotypes