GJB3

gap junction protein beta 3
OMIM: 603324, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red GJB3 in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 1.23	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Erythrokeratodermia variabilis et progressiva 1 MIM#133200
Green GJB3 in Mendeliome Version 1.3795	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrokeratodermia variabilis et progressiva 1, MIM# 133200
Green GJB3 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.137	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrokeratodermia variabilis et progressiva 1, OMIM #133200
Red GJB3 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 2B, MIM# 612644 Tags disputed
Red GJB3 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.45 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	Not set	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy