GJB2

gap junction protein beta 2
OMIM: 121011, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red GJB2 in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.6	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Other Phenotypes Hystrix-like ichthyosis with deafness, 602540 HID syndrome Scarring alopecia
Amber GJB2 in Familial hidradenitis suppurativa Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.5	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, 148210 with follicular occlusion triad (includes hidradenitis suppurativa)
Green GJB2 in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.35	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Keratoderma with deafness Deafness, autosomal recessive 1A, 220290 Deafness, autosomal dominant 3A, 601544 Vohwinkel syndrome, 124500 Keratoderma, palmoplantar, with deafness, 148350 Keratitis-ichthyosis-deafness syndrome, 148210 Hystrix-like ichthyosis with deafness, 602540 Bart-Pumphrey syndrome, 149200
Green GJB2 in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hystrix-like ichthyosis with deafness, OMIM:602540 Keratoderma, palmoplantar, with deafness, OMIM:148350 Keratitis-ichthyosis-deafness syndrome, OMIM:148210 Vohwinkel syndrome, OMIM:24500 Bart-Pumphrey syndrome, OMIM:149200
Amber GJB2 in Ectodermal dysplasia Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hystrix-like ichthyosis with deafness, 602540 clouston syndrome Scarring alopecia HID syndrome
Red GJB2 in Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Version 1.30	review	Unknown	Sources Expert Review Red Literature Phenotypes clouston syndrome
Green GJB2 in Palmoplantar keratodermas Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix
Red GJB2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes VOHWINKEL SYNDROME ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME PALMOPLANTAR KERATODERMA WITH DEAFNESS BART-PUMPHREY SYNDROME DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A
No list GJB2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Removed DD-Gene2Phenotype Phenotypes VOHWINKEL SYNDROME 124500 ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME 602540 PALMOPLANTAR KERATODERMA WITH DEAFNESS 148350 DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A 220290 BART-PUMPHREY SYNDROME 149200 Tags curated_removed
Green GJB2 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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 recessive 1A, 220290 Deafness, autosomal dominant 3A, 601544 Vohwinkel syndrome, 124500 Keratoderma, palmoplantar, with deafness, 148350 Keratitis-ichthyosis-deafness syndrome, 148210 Hystrix-like ichthyosis with deafness, 602540 Bart-Pumphrey syndrome, 149200 Nonsyndromic Hearing Loss, Dominant Hearing Loss or deafness Tags cnv
Red GJB2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Deafness, autosomal recessive 1A, 220290 Deafness, autosomal dominant 3A, 601544 Vohwinkel syndrome, 124500 Keratoderma, palmoplantar, with deafness, 148350 Keratitis-ichthyosis-deafness syndrome, 148210 Hystrix-like ichthyosis with deafness, 602540 Bart-Pumphrey syndrome, 149200