ESPN

espin
OMIM: 606351, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ESPN in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 36, MIM# 609006 Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006
Green ESPN in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 36, MIM# 609006 Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006
Red ESPN in Usher Syndrome Level 2: Ophthalmological disorders Version 1.5 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Usher syndrome, type 1M, MIM#618632
Green ESPN in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.67	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 36, MIM# 609006 Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006
Green ESPN in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Deafness, autosomal recessive 36, MIM# 609006
Green ESPN in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Deafness, autosomal recessive 36, MIM# 609006 Tags deafness