CHP1

calcineurin like EF-hand protein 1
OMIM: 606988, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber CHP1 in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Spastic ataxia 9, autosomal recessive, OMIM:618438 Tags watchlist
Amber CHP1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic ataxia 9, autosomal recessive, OMIM:618438 Tags watchlist
Amber CHP1 in Childhood onset hereditary spastic paraplegia Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Spastic ataxia 9, autosomal recessive, OMIM:618438 Tags watchlist
Amber CHP1 in Adult onset hereditary spastic paraplegia Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Spastic ataxia 9, autosomal recessive, OMIM:618438 Tags watchlist
Amber CHP1 in Hereditary ataxia with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Spastic ataxia 9, autosomal recessive, OMIM:618438 Tags watchlist