GJB2

gap junction protein beta 2
OMIM: 121011, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green GJB2 in Ichthyosis Level 2: Dermatological disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Hystrix-like ichthyosis with deafness MIM#602540 Keratitis-ichthyosis-deafness syndrome MIM#148210
Green GJB2 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bart-Pumphrey syndrome, MIM#149200 Deafness, autosomal dominant 3A, MIM#601544 Deafness, autosomal recessive 1A, MIM#220290 Hystrix-like ichthyosis with deafness, MIM#602540 Keratitis-ichthyosis-deafness syndrome, MIM#148210 Keratoderma, palmoplantar, with deafness, MIM#148350 Vohwinkel syndrome, MIM# 124500
Green GJB2 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bart-Pumphrey syndrome, MIM#149200 Deafness, autosomal dominant 3A, MIM#601544 Deafness, autosomal recessive 1A, MIM#220290 Hystrix-like ichthyosis with deafness, MIM#602540 Keratitis-ichthyosis-deafness syndrome, MIM#148210 Keratoderma, palmoplantar, with deafness, MIM#148350 Vohwinkel syndrome, MIM# 124500
Green GJB2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Bart-Pumphrey syndrome, MIM#149200 Deafness, autosomal dominant 3A, MIM#601544 Deafness, autosomal recessive 1A, MIM#220290 Hystrix-like ichthyosis with deafness, MIM#602540 Keratitis-ichthyosis-deafness syndrome, MIM#148210 Keratoderma, palmoplantar, with deafness, MIM#148350 Vohwinkel syndrome, MIM# 124500
Red GJB2 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes NA
Green GJB2 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, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome
Green GJB2 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Phenotypes Keratitis-ichthyosis-deafness syndrome, MIM#148210 Deafness, autosomal dominant 3A, MIM#601544 Bart-Pumphrey syndrome, MIM#149200 Vohwinkel syndrome, MIM# 124500 Deafness, autosomal recessive 1A, MIM#220290 Keratoderma, palmoplantar, with deafness, MIM#148350 Hystrix-like ichthyosis with deafness, MIM#602540
Green GJB2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness Deafness and palmoplantar keratoderma
Green GJB2 in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Deafness, autosomal recessive 1A MIM#220290 non-syndromic auditory neuropathy spectrum disorder
Red GJB2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bart-Pumphrey syndrome, MIM#149200 Deafness, autosomal dominant 3A, MIM#601544 Deafness, autosomal recessive 1A, MIM#220290 Hystrix-like ichthyosis with deafness, MIM#602540 Keratitis-ichthyosis-deafness syndrome, MIM#148210 Keratoderma, palmoplantar, with deafness, MIM#148350 Vohwinkel syndrome, MIM# 124500
Green GJB2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Deafness, autosomal recessive 1A, MIM# 220290 Tags deafness