GJB6

gap junction protein beta 6
OMIM: 604418, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green GJB6 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 Other Phenotypes Ectodermal dysplasia 2, Clouston type, 129500 Clouston syndrome palmoplantar hyperkeratosis ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
Red GJB6 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 GJB6 in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Ectodermal dysplasia 2, Clouston type, OMIM:129500
Green GJB6 in Ectodermal dysplasia Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Ectodermal dysplasia 2, Clouston type, 129500 Clouston syndrome Hidrotic Ectodermal Dysplasia
Green GJB6 in Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Version 1.30	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Clouston syndrome Ectodermal dysplasia 2, Clouston type, 129500 Hidrotic Ectodermal Dysplasia
Green GJB6 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 NHS GMS Expert Review Green Eligibility statement prior genetic testing Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Deafness, autosomal recessive 1B, OMIM:612645 autosomal recessive nonsyndromic hearing loss 1B, MONDO:0012977 Tags cnv