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 3.52 Signed off v.3.2 on 13 Feb 2020	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 1.440	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 (CMT4A) Charcot-Marie-Tooth disease, axonal, type 2K Charcot-Marie-Tooth disease, axonal, with vocal cord paresis Charcot-Marie-Tooth disease, recessive intermediate, A Charcot-Marie-Tooth disease, type 4A
Green GDAP1 in Inborn errors of metabolism Version 2.50 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	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 (CMT4A) Charcot-Marie-Tooth disease, type 4A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis Charcot-Marie-Tooth disease, recessive intermediate, A Charcot-Marie-Tooth disease, axonal, type 2K
Green GDAP1 in Possible mitochondrial disorder - nuclear genes Version 1.31 Signed off v.1.17 on 11 Nov 2020	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, 607831 Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 Charcot-Marie-Tooth disease, type 4A, 214400 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706
Green GDAP1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	BOTH monoallelic and biallelic, 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, 607831 Charcot Marie Tooth disease, type 4A, 214400 Charcot-Marie-Tooth, Intermediate (Dominant) Charcot Marie Tooth disease, type 4A, 214400 Charcot Marie Tooth disease, recessive intermediate, A, 608340 Charcot Marie Tooth disease, axonal, type 2K, 607831 Charcot-Marie-Tooth, Intermediate (Dominant) Charcot-Marie-Tooth with Vocal Cord Paresis (recessive) Charcot Marie Tooth disease, recessive intermediate, A, 608340
Red GDAP1 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, type 4A, 214400 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 Charcot-Marie-Tooth disease, recessive intermediate, A, 608340
Green GDAP1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 2.14 Signed off v.2.4 on 17 Feb 2020 Component of the following Super Panels: White matter disorders - childhood onset	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 (CMT4A) Charcot-Marie-Tooth disease, axonal, type 2K Charcot-Marie-Tooth disease, axonal, with vocal cord paresis Charcot-Marie-Tooth disease, recessive intermediate, A Charcot-Marie-Tooth disease, type 4A
Green GDAP1 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	BOTH monoallelic and biallelic, 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, recessive intermediate, A, 608340 Charcot-Marie-Tooth with Vocal Cord Paresis (recessive) Charcot Marie Tooth disease, type 4A, 214400 Charcot Marie Tooth disease, axonal, type 2K, 607831 Charcot-Marie-Tooth, Intermediate (Dominant)
Red GDAP1 in Childhood onset dystonia or chorea or related movement disorder Version 1.74 Signed off v.1.58 on 6 Oct 2020	review	Not set	Sources Expert Review Red London North GLH
Green GDAP1 in Severe Paediatric Disorders Version 1.43	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 Charcot-Marie-Tooth disease, type 4A, 214400 Charcot-Marie-Tooth disease, recessive intermediate, A, 608340