ISCA-37441-Loss

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green ISCA-37441-Loss Region in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes Potocki-Shaffer syndrome multiple exostoses biparietal foramina intellectual disability strabismus minor craniofacial anomalies myopia ophthalmologic anomalies 601224 mental retardation enlarged anterior fontanel genital abnormalities in males parietal foramina developmental delay
Green ISCA-37441-Loss Region in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.179 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes Potocki-Shaffer syndrome multiple exostoses biparietal foramina intellectual disability strabismus minor craniofacial anomalies myopia ophthalmologic anomalies 601224 mental retardation enlarged anterior fontanel genital abnormalities in males parietal foramina developmental delay
Green ISCA-37441-Loss Region in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.524 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Potocki-Shaffer syndrome multiple exostoses biparietal foramina intellectual disability strabismus minor craniofacial anomalies myopia ophthalmologic anomalies 601224 mental retardation enlarged anterior fontanel genital abnormalities in males parietal foramina developmental delay