HPCA

hippocalcin
OMIM: 142622, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green HPCA in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dystonia 2, torsion, autosomal recessive, 224500 childhood-onset generalized dystonia adolescence-onset segmental dystonia generalized dystonia with additional neurological features
Red HPCA in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia 2, torsion, autosomal recessive, 224500 generalized dystonia with additional neurological features adolescence-onset segmental dystonia childhood-onset generalized dystonia
Green HPCA in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia 2, torsion, autosomal recessive, OMIM:224500
Green HPCA in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes adolescence-onset segmental dystonia generalized dystonia with additional neurological features Dystonia 2, torsion, autosomal recessive, 224500 childhood-onset generalized dystonia
Green HPCA in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Dystonia 2, torsion, autosomal recessive, 224500