RNU12

RNA, U12 small nuclear
Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red RNU12 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.76 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Spinocerebellar ataxia, autosomal recessive 33, OMIM:620208
Green RNU12 in Rare genetic inflammatory skin disorders Level 2: Dermatology Version 4.18 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes CDAGS syndrome, OMIM:603116 porokeratosis erythematous cutaneous eruption Tags locus-type-rna-small-nuclear
Green RNU12 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations CDAGS syndrome, OMIM:603116 Tags locus-type-rna-small-nuclear
Green RNU12 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.4 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes CDAGS syndrome, OMIM:603116 craniosynostosis-anal anomalies-porokeratosis syndrome, MONDO:001128 Tags locus-type-rna-small-nuclear
Red RNU12 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes RNU12-related CDAGS syndrome Tags locus-type-rna-small-nuclear
Red RNU12 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.176 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Spinocerebellar ataxia, autosomal recessive 33, OMIM:620208