MTPAP

mitochondrial poly(A) polymerase
OMIM: 613669, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red MTPAP in COVID-19 research Level 2: Viral research Version 1.142	review	Unknown	Sources Literature
Red MTPAP 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 Expert Review Red Phenotypes Ataxia, spastic, 4,
Red MTPAP 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 Red UKGTN Radboud University Medical Center, Nijmegen Phenotypes Ataxia, spastic, 4,
Red MTPAP in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	Unknown	Sources Literature Phenotypes primary immunodeficiency
Amber MTPAP in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber UKGTN Radboud University Medical Center, Nijmegen Phenotypes Ataxia, spastic, 4 Spastic ataxia 4, autosomal recessive
Red MTPAP in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672
Amber MTPAP in Childhood onset hereditary spastic paraplegia Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Amber NHS GMS London North GLH UKGTN Radboud University Medical Center, Nijmegen Phenotypes Ataxia, spastic, 4 Spastic ataxia 4, autosomal recessive ?Spastic ataxia 4, autosomal recessive, 613672
Amber MTPAP in Adult onset hereditary spastic paraplegia Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Ataxia, spastic, 4 ?Spastic ataxia 4, autosomal recessive, 613672 Spastic ataxia 4, autosomal recessive
Red MTPAP in Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Ataxia, spastic, 4, Ataxia, spastic, 4 Spastic ataxia 4, autosomal recessive
Green MTPAP in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes ?Spastic ataxia 4, autosomal recessive, 613672
Green MTPAP in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes ?Spastic ataxia 4, autosomal recessive 613672
Green MTPAP in Possible mitochondrial disorder - nuclear genes Version 3.106 Latest signed off version: v3.105 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes ?Spastic ataxia 4, autosomal recessive, 613672
Amber MTPAP in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Spastic ataxia 4, autosomal recessive, OMIM:613672
Red MTPAP in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ?Spastic ataxia 4, autosomal recessive
Green MTPAP in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Expert Phenotypes ?Spastic ataxia 4, autosomal recessive 613672
Amber MTPAP 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 Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Ataxia, spastic, 4, Autosomal recessive spastic ataxia 4, 613672
Red MTPAP in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Amber MTPAP in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Amber Expert list Phenotypes ?Spastic ataxia 4, autosomal recessive, 613672