CHMP1A

charged multivesicular body protein 1A
OMIM: 164010, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CHMP1A in Ataxia and cerebellar anomalies - narrow panel Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 8, 614961
Green CHMP1A 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 Green Expert Review Phenotypes Pontocerebellar hypoplasia, type 8, 614961
Red CHMP1A in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Red CHMP1A in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red
Green CHMP1A in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.73	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Other Literature Phenotypes Pontocerebellar Hypoplasia type 8 Pontocerebellar Hypoplasia Pontocerebellar hypoplasia,type 8,614961
Red CHMP1A 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 Pontocerebellar hypoplasia, type 8, 614961
Green CHMP1A in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Pontocerebellar hypoplasia, type 8, OMIM:614961 Pontocerebellar hypoplasia type 8, MONDO:0013990
Green CHMP1A in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961
Green CHMP1A 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 Green Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 8 614961
Amber CHMP1A in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia, type 8 OMIM:614961 pontocerebellar hypoplasia type 8 MONDO:0013990
Red CHMP1A in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green CHMP1A in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Pontocerebellar hypoplasia, type 8, 614961