SHQ1

SHQ1, H/ACA ribonucleoprotein assembly factor
OMIM: 613663, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green SHQ1 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.8 Latest signed off version: v9.0 (6 May 2026) 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 Green NHS GMS Literature Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921 dystonia 35, childhood-onset, MONDO:0030958 Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 neurodevelopmental disorder with dystonia and seizures, MONDO:0859258
Green SHQ1 in Intellectual disability Level 2: Developmental disorders Version 10.18 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921 dystonia 35, childhood-onset, MONDO:0030958 Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 neurodevelopmental disorder with dystonia and seizures, MONDO:0859258
Green SHQ1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 8.3 Latest signed off version: v8.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921 dystonia 35, childhood-onset, MONDO:0030958 Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 neurodevelopmental disorder with dystonia and seizures, MONDO:0859258