RNU4-2

RNA, U4 small nuclear 2
ClinGen, DECIPHER

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green RNU4-2 in Mendeliome Version 1.4235	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 Retinitis pigmentosa, MONDO:0019200, RNU4-2 related Tags non-coding gene
Green RNU4-2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.365 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 Tags non-coding gene
Green RNU4-2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.650	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 Tags non-coding gene
Green RNU4-2 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 0.238 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa, MONDO:0019200, RNU4-2 related Tags non-coding gene