ISCA-37441-Loss

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green ISCA-37441-Loss Region in Skeletal dysplasia Level 2: Musculoskeletal Version 10.5 Latest signed off version: v10.0 (12 Aug 2026) 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 2: Musculoskeletal Version 7.1 Latest signed off version: v7.0 (12 Aug 2026)	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 Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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