GJB2:Ensemblv90

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 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
Red GJB2 in TCGA_PANCAN_2018 Version 0.3	0 reviews	Other	Sources TCGA_PANCAN_2018 Phenotypes NA
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 Deafness_Isolated Level 2: Hearing and ear disorders Version 1.84	1 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	0 reviews	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 1.2	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 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
Green GJB2 in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Hystrix-like ichthyosis with deafness MIM#602540 Keratitis-ichthyosis-deafness syndrome MIM#148210
Green GJB2 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green 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 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Expert Review Green 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 1.0	0 reviews	Other	Sources TCGA_PANCAN_2018 Phenotypes NA
Green GJB2 in Ectodermal Dysplasia Level 2: Dermatological disorders Version 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green 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 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Expert Review Green 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 Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Deafness, autosomal recessive 1A MIM#220290 non-syndromic auditory neuropathy spectrum disorder
Red GJB2 in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Literature Expert Review Red 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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 1A, MIM# 220290 Tags deafness

GJB2:Ensemblv90

20 panels

Green GJB2 in Ichthyosis and Porokeratosis

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Phenotypes

Green GJB2 in Mendeliome

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Phenotypes

Green GJB2 in Palmoplantar Keratoderma and Erythrokeratoderma

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Phenotypes

Green GJB2 in Deafness_IsolatedAndComplex

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Phenotypes

Red GJB2 in TCGA_PANCAN_2018

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Phenotypes

Green GJB2 in Ectodermal Dysplasia

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Phenotypes

Green GJB2 in Deafness_Isolated

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Phenotypes

Green GJB2 in Additional findings_Paediatric

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Phenotypes

Green GJB2 in Auditory Neuropathy

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Phenotypes

Red GJB2 in Prepair 1000+

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Phenotypes

Green GJB2 in Genomic newborn screening: BabyScreen+

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Phenotypes

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Green GJB2 in Ichthyosis and Porokeratosis

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Phenotypes

Green GJB2 in Palmoplantar Keratoderma and Erythrokeratoderma

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Phenotypes

Green GJB2 in Deafness_IsolatedAndComplex

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Phenotypes

Red GJB2 in TCGA_PANCAN_2018

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Phenotypes

Green GJB2 in Ectodermal Dysplasia

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Phenotypes

Green GJB2 in Deafness_Isolated

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Phenotypes

Green GJB2 in Auditory Neuropathy

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Phenotypes

Red GJB2 in Prepair 1000+

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Phenotypes

Green GJB2 in Genomic newborn screening: BabyScreen+

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Phenotypes

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