GJB2

gap junction protein beta 2
OMIM: 121011, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green GJB2 in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 1.23	1 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 1.3802	1 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 0.137	1 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 1.304	1 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
Green GJB2 in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.103	0 reviews	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 Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness Deafness and palmoplantar keratoderma
Red GJB2 in Prepair 1000+ Level 2: Screening Version 2.15	2 reviews	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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Deafness, autosomal recessive 1A, MIM# 220290 Tags deafness