ATL1

atlastin GTPase 1
OMIM: 606439, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red ATL1 in Familial dysautonomia Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Neuropathy, hereditary sensory, type ID 613708
Green ATL1 in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literaure Review Phenotypes Neuropathy, hereditary sensory, type ID, 613708 HSN1D Hereditary spastic paraplegia, 182600 Hereditary sensory neuropathy
Red ATL1 in Paroxysmal central nervous system disorders Version 1.10 Signed off v.1.2 on 27 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Spastic paraplegia 3A, autosomal dominant, 182600 Neuropathy, hereditary sensory, type ID, 613708 HSN1D Hereditary sensory neuropathy
Green ATL1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.219	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Eligibility statement prior genetic testing Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 3A, autosomal dominant, Spastic Paraplegia, Dominant Spastic paraplegia 3A, autosomal dominant
Green ATL1 in Hereditary spastic paraplegia - childhood onset Version 2.25 Signed off v.2.18 on 8 Oct 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS London North GLH Illumina TruGenome Clinical Sequencing Services Eligibility statement prior genetic testing Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spastic paraplegia 3A, autosomal dominant,182600 Spastic Paraplegia, Dominant
Green ATL1 in Hereditary spastic paraplegia - adult onset Version 1.16 Signed off v.1.12 on 15 Oct 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 3A, 182600 autosomal dominant Spastic Paraplegia, Dominant Neuropathy, hereditary sensory, type ID, 613708
Red ATL1 in Neurodegenerative disorders - adult onset Version 2.38 Signed off v.2.31 on 8 Oct 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 3A, autosomal dominant, Spastic Paraplegia, Dominant Spastic paraplegia 3A, autosomal dominant
Green ATL1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Neuropathy, hereditary sensory, type ID, 613708
Green ATL1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 3A, autosomal dominant, 182600 Hereditary spastic paraplegia Intellectual disability Tags for-review
Green ATL1 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Neuropathy, hereditary sensory, type ID, 613708
Green ATL1 in Severe Paediatric Disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory, type ID, 613708 Spastic paraplegia 3A, autosomal dominant, 182600