SGCD

sarcoglycan delta
OMIM: 601411, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SGCD in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, type 2F, 601287 Limb-girdle muscular dystrophy Limb-Girdle Muscular Dystrophy, Recessive
Green SGCD in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.85	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Wessex and West Midlands GLH Expert Review Green UKGTN Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Cardiomyopathy, dilated, 1L Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287) Cardiomyopathy, dilated, 1L (606685)
Red SGCD 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 Expert list
Green SGCD in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.32 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2F, 601287 Limb-girdle muscular dystrophy
Red SGCD in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.9	review	Not set	Sources Literature Phenotypes anorectal malformation
Amber SGCD in Dilated and arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.22 Latest signed off version: v2.8 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber UKGTN South West GLH Radboud University Medical Center, Nijmegen Wessex and West Midlands GLH Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Wessex and West Midlands GLH Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287) Cardiomyopathy, dilated, 1L Cardiomyopathy, dilated, 1L (606685)
Red SGCD in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Amber SGCD in Paediatric or syndromic cardiomyopathy Version 3.46 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1L, 606685
Red SGCD in Hereditary neuropathy or pain disorder Version 3.92 Latest signed off version: v3.24 (15 May 2023)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy
Green SGCD 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 Cardiomyopathy, dilated, 1L, 606685 Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287