GJB3

gap junction protein beta 3
OMIM: 603324, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green GJB3 in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.35	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Other Phenotypes Erythrokeratodermia variabilis et progressiva, 133200 Erythrokeratodermia Variabilis Erythrokeratoderma deafness peripheral neuropathy
Red GJB3 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.4	review	Not set	Sources Literature
Green GJB3 in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Erythrokeratodermia variabilis et progressiva, OMIM:133200
Green GJB3 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 EKVP1 Erythrokeratodermia variabilis
Green GJB3 in Rare genetic inflammatory skin disorders Level 2: Dermatology Version 4.16 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Erythrokeratodermia variabilis et progressiva 1, OMIM:133200
No list GJB3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed
Green GJB3 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 DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200 DEAFNESS, AUTOSOMAL RECESSIVE
Amber GJB3 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes hearing loss Nonsyndromic Hearing Loss, Dominant Erythrokeratodermia variabilis et progressiva, 133200 Deafness, autosomal dominant 2B, 612644 Deafness, autosomal recessive Deafness, autosomal dominant, with peripheral neuropathy Deafness, digenic, GJB2/GJB3, 220290
Amber GJB3 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Erythrokeratodermia variabilis et progressiva, 133200 Deafness, autosomal dominant 2B, 612644 Deafness, autosomal recessive Deafness, autosomal dominant, with peripheral neuropathy Deafness, digenic, GJB2/GJB3, 220290