OTOF:Ensemblv90

otoferlin
OMIM: 603681, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green OTOF in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Auditory neuropathy, autosomal recessive, 1 (MIM # 601071) Deafness, autosomal recessive 9 (MIM # 601071)
Green OTOF in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Auditory neuropathy, autosomal recessive, 1 (MIM # 601071) Deafness, autosomal recessive 9 (MIM # 601071
Green OTOF in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.84	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Phenotypes Auditory neuropathy, autosomal recessive, 1 (MIM # 601071) Deafness, autosomal recessive 9 (MIM # 601071
Green OTOF in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive
Green OTOF in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Auditory neuropathy, autosomal recessive, 1 MIM#601071 non-syndromic auditory neuropathy spectrum disorder
Green OTOF 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 9, MIM#601071 Tags deafness
Green OTOF in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Expert Review Green Phenotypes Auditory neuropathy, autosomal recessive, 1 (MIM # 601071) Deafness, autosomal recessive 9 (MIM # 601071
Green OTOF in Deafness_Isolated Level 2: Hearing and ear disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Auditory neuropathy, autosomal recessive, 1 (MIM # 601071) Deafness, autosomal recessive 9 (MIM # 601071
Green OTOF in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Auditory neuropathy, autosomal recessive, 1 MIM#601071 non-syndromic auditory neuropathy spectrum disorder
Green OTOF 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 9, MIM#601071 Tags deafness