CHMP1A

charged multivesicular body protein 1A
OMIM: 164010, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green CHMP1A in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.78	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 8, MIM# 614961
Green CHMP1A in Mendeliome Version 1.2511	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 8, MIM# 614961
Green CHMP1A in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.542	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red CHMP1A in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.577	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 8, MIM# 614961
Green CHMP1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.117	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia, type 8, MIM# 614961
Red CHMP1A in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.34 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 8, 614961
Green CHMP1A in Fetal anomalies Version 1.321	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia type 8, MONDO:0013990 Pontocerebellar hypoplasia, type 8, OMIM:614961
Green CHMP1A in Prepair 1000+ Level 2: Screening Version 2.7	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 8 MIM#614961