RNU6ATAC

RNA, U6atac small nuclear (U12-dependent splicing)
OMIM: 601429, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber RNU6ATAC in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.82 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 Expert Review Amber Literature Phenotypes Ataxia, HP:0001251 neurodevelopmental disorder, MONDO:0700092 Immune dysregulation, HP:0002958 neonatal diabetes mellitus, MONDO:0016391
Amber RNU6ATAC in Neonatal diabetes Level 2: Endocrinology Version 5.26 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neonatal diabetes mellitus, MONDO:0016391 hypothyroidism humoral immunue defect hepatic disorder growth failure failure to thrive skeletal abnormalities atopic dermatitis vitiligo alopecia Tags Q1_26_promote_green locus-type-rna-small-nuclear
Amber RNU6ATAC in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.99 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes hypothyroidism, MONDO:0005420 Immune dysregulation, HP:0002958 thyroiditis, MONDO:0004126 alopecia, MONDO:0004907 Tags Q1_26_promote_green locus-type-rna-small-nuclear
Amber RNU6ATAC in Early onset or syndromic epilepsy Level 2: Neurology Version 8.192 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 Expert Review Amber Literature Phenotypes Seizure, HP:0001250 neurodevelopmental disorder, MONDO:0700092 Immune dysregulation, HP:0002958 neonatal diabetes mellitus, MONDO:0016391
Amber RNU6ATAC in Intellectual disability Level 2: Developmental disorders Version 9.397 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Immune dysregulation, HP:0002958 neonatal diabetes mellitus, MONDO:0016391 Tags Q2_26_promote_green