GJB6

gap junction protein beta 6
OMIM: 604418, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green GJB6 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 3B, MIM# 612643 Deafness, autosomal recessive 1B, MIM# 612645 Ectodermal dysplasia 2, Clouston type, MIM# 129500 Tags SV/CNV
Green GJB6 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 2, Clouston type (MIM# 129500)
Green GJB6 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	Other	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive and autosomal dominant Tags SV/CNV
Green GJB6 in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.86	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)
Green GJB6 in Hair disorders Level 2: Dermatological disorders Version 0.71	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 2, Clouston type, 129500