GDAP1

ganglioside induced differentiation associated protein 1
OMIM: 606598, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red GDAP1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red Expert list
Green GDAP1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Green GDAP1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Green GDAP1 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Green GDAP1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Red GDAP1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Green GDAP1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Green GDAP1 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Red GDAP1 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green GDAP1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400