SHQ1

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

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber SHQ1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber 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 Tags Q4_23_promote_green
Amber SHQ1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber 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 Tags Q4_23_promote_green
Amber SHQ1 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber 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 Tags Q4_23_promote_green