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 1.31	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 1.3	review	Not set	Sources Literature
Green GJB6 in Ichthyosis and erythrokeratoderma Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Ectodermal dysplasia 2, Clouston type, OMIM:129500
Green GJB6 in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	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 1.28	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
Amber GJB6 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Eligibility statement prior genetic testing Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes hearing loss Deafness, autosomal dominant 3B, 612643 Deafness, autosomal recessive 1B, 612645 Deafness, digenic GJB2/GJB6, 220290 Ectodermal dysplasia 2, Clouston type, 129500 Nonsyndromic Hearing Loss, Dominant