DIAPH3:Ensemblv90

diaphanous related formin 3
OMIM: 614567, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red DIAPH3 in Mendeliome Version 1.3802	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Auditory neuropathy, autosomal dominant, 1, MIM#609129
Amber DIAPH3 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Auditory neuropathy, autosomal dominant, 1, MIM#609129
Amber DIAPH3 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.84	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Auditory neuropathy, autosomal dominant, 1, MIM#609129 Tags 5'UTR
Amber DIAPH3 in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Auditory neuropathy, autosomal dominant, 1 MIM#609129 non-syndromic auditory neuropathy spectrum disorder
Amber DIAPH3 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Expert Review Amber Phenotypes Auditory neuropathy, autosomal dominant, 1, MIM#609129
Amber DIAPH3 in Deafness_Isolated Level 2: Hearing and ear disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Expert Review Amber Phenotypes Auditory neuropathy, autosomal dominant, 1, MIM#609129 Tags 5'UTR
Amber DIAPH3 in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Literature Expert Review Amber Phenotypes Auditory neuropathy, autosomal dominant, 1 MIM#609129 non-syndromic auditory neuropathy spectrum disorder